complex cortical dysplasia with other brain malformations 1 (DOID:0090137)
Alliance: disease page
Synonyms: CDCBM1; cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Alt IDs: OMIM:614039, ICD10CM:Q04.3, ORDO:300570
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.