| Term Name: | complex cortical dysplasia with other brain malformations 1 |
|---|---|
| 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 ) |