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 )

Relationships
is a type of: autosomal recessive disease congenital nervous system abnormality