Term Name: | complex cortical dysplasia with other brain malformations 3 |
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Synonyms: | CDCBM3 |
Definition: | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. |
Ontology: | Human Disease [DOID:0090134] ( DOID:0090134 ) |