Term Name: complex cortical dysplasia with other brain malformations 7
Synonyms: CDCBM7, polymicrogyria due to TUBB2B mutation
Definition: A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.
Ontology: Human Disease [DOID:0090132]   ( DOID:0090132 )

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