Conditions / Nervous system
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
info · Nervous system
A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mu
A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21.
Signs and symptoms
- Encephalopathy
- Delayed CNS myelination
- Global brain atrophy
- Thin corpus callosum
- Ventricular septal defect
- Cataract
- Periventricular heterotopia
- Cortical dysplasia
- Hydrops fetalis
- Abnormal periventricular white matter morphology
Also known as: NEDBAC