Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Agenesis of corpus callosum with lipoma |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
Hypoplasia of corpus callosum |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
4 |
Congenital malformation of corpus callosum |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
Hypoplasia of corpus callosum |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
Partial agenesis of corpus callosum |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
Corpus callosum part |
Is a |
True |
Corpus callosum structure |
Inferred relationship |
Some |
|
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
5 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
8 |
Abscess of corpus callosum (disorder) |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
4 |
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. |
Finding site |
False |
Corpus callosum structure |
Inferred relationship |
Some |
3 |
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
X-linked complicated corpus callosum dysgenesis (disorder) |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
2 |
A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |
Snowball lesion of corpus callosum (finding) |
Finding site |
True |
Corpus callosum structure |
Inferred relationship |
Some |
1 |