Term Name: complex cortical dysplasia with other brain malformations 11
Synonyms: CDCBM11
Definition: A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32.
Ontology: Human Disease [DOID:0061142]   ( DOID:0061142 )

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