| Term Name: | neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities |
|---|---|
| Synonyms: | NEDBAC |
| Definition: | 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. |
| Ontology: | Human Disease [DOID:0070714] ( DOID:0070714 ) |