Term Name: complex cortical dysplasia with other brain malformations 3
Synonyms: CDCBM3
Definition: A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.
Ontology: Human Disease [DOID:0090134]   ( DOID:0090134 )

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