Term Name: | complex cortical dysplasia with other brain malformations 5 |
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Synonyms: | CDCBM5 |
Definition: | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. |
Ontology: | Human Disease [DOID:0090135] ( DOID:0090135 ) |