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complex cortical dysplasia with other brain malformations 1
Summary
- Synonym
-
- 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.
- Super Class
- complex cortical dysplasia with other brain malformations
External Links
- Disease Ontology
- DOID:0090137
- Mondo Disease Ontology
- ORDO
- OMIM
