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

Xenbase Genes : tubb3

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


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

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