1360070001: Spastic paraparesis, cataracts, speech delay syndrome (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe 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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe 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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\...

\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Spastic paraplegia\Hereditary spastic paraplegia\...

\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\...

\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Spastic paraplegia\Hereditary spastic paraplegia\...

\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\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 (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\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 (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of left eye region (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of right eye region\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Degenerative disorder of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of right eye proper\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Degenerative disorder of left eye (disorder)\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Degenerative disorder of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of bilateral eyes\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of left eye proper (disorder)\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (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\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of left eye\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Disorder of lens of bilateral eyes (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Disorder of lens of right eye\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of right eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Cataract of left eye (disorder)\Bilateral cataracts\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Metabolic disease\Chronic metabolic disorder\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Chronic disease\Chronic metabolic disorder\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Chronic disease\Chronic nervous system disorder\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Chronic disease\Chronic nervous system disorder\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal dominant complex hereditary spastic paraplegia (disorder)\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Developmental disorder\Developmental hereditary disorder\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.
\Disease\Developmental disorder\Developmental delay\A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5439597019 A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5439598012 A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5439594014 Spastic paraparesis, cataracts, speech delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5439595010 Spastic paraparesis, cataracts, speech delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5439596011 Fatty acyl-CoA reductase 1 superactivity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Autosomal dominant complex hereditary spastic paraplegia (disorder)	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Developmental delay	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Disorder of lipid metabolism	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Is a	Bilateral cataracts	true	Inferred relationship	Some
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Clinical course	Progressive	true	Inferred relationship	Some	4
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Interprets	mouvement	false	Inferred relationship	Some	8
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Occurrence	Congenital	true	Inferred relationship	Some	10
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	6
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	7
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Interprets	Movement observable	true	Inferred relationship	Some	9
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Has interpretation	Absent	true	Inferred relationship	Some	9
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Finding site	Structure of lens of right eye	true	Inferred relationship	Some	2
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Associated morphology	Abnormally opaque structure (morphologic abnormality)	true	Inferred relationship	Some	2
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Finding site	Structure of lens of left eye	true	Inferred relationship	Some	3
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	Associated morphology	Abnormally opaque structure (morphologic abnormality)	true	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
5439597019	A rare disorder of fatty acid biosynthesis characterized by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439598012	A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439594014	Spastic paraparesis, cataracts, speech delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5439595010	Spastic paraparesis, cataracts, speech delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5439596011	Fatty acyl-CoA reductase 1 superactivity	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core