Term Name: | complex cortical dysplasia with other brain malformations 1 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0090137] ( DOID:0090137 ) |