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Summary Literature (0)
DOID:0090137 - complex cortical dysplasia with other brain malformations 1

Disease Ontology 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.

Synonyms: cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation, CDCBM1

Xenbase Genes : tubb3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013541 - complex cortical dysplasia with other brain malformations 1

MIM:
MIM:614039 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal dominant disease (is_a), complex cortical dysplasia with other brain malformations (is_a)