Term Name: complex cortical dysplasia with other brain malformations 1
Synonyms: CDCBM1, cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Definition: A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.
Ontology: Human Disease [DOID:0090137]   ( DOID:0090137 )

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