773627004: Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.

\Neurological lesion\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.

\Central nervous system finding\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.

\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding (finding)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of right eye region (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Bilateral disorder of lens\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Disorder of lens of right eye (disorder)\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Cataract\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disorder of lens (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of left eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Kongenitale Anomalie der Linse\Congenital cataract\Congenital cataract of right eye\Congenital cataract of bilateral eyes (disorder)\A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724874010 Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724875011 Porencephaly, microcephaly, bilateral congenital cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724876012 A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3724877015 A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3724874010 Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724875011 Porencephaly, microcephaly, bilateral congenital cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3724876012 A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3724877015 A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3418541001000115 Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974441000172112 syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

974441000172112 syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3418541001000115 Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Structure of lens of left eye (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Congenital cataract of bilateral eyes (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Structure of lens of right eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Congenital porencephaly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Cataract	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Cataract	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Structure of lens of left eye (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Opacity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Cystic dilatation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	Opacity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Finding site	Structure of lens of right eye	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
3724874010	Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724875011	Porencephaly, microcephaly, bilateral congenital cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724876012	A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724877015	A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724874010	Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724875011	Porencephaly, microcephaly, bilateral congenital cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724876012	A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724877015	A rare genetic central nervous system malformation syndrome characterised by bilateral congenital cataracts and severe haemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalised spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418541001000115	Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974441000172112	syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974441000172112	syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418541001000115	Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module