DISEASES

Disease-gene associations mined from literature

Human genes for complex cortical dysplasia with other brain malformations 1

Complex cortical dysplasia with other brain malformations 1 [DOID:0090137]

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.

Synonyms:  complex cortical dysplasia with other brain malformations 1,  DOID:0090137,  CDCBM1,  cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation