Term Name: complex cortical dysplasia with other brain malformations 9
Synonyms: CDCBM9
Definition: A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.
Ontology: Human Disease [DOID:0061138]   ( DOID:0061138 )

Relationships
is a type of: autosomal recessive disease complex cortical dysplasia with other brain malformations