Term Name: | complex cortical dysplasia with other brain malformations 2 |
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Synonyms: | CDCBM2 |
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 5C (KIF5C) gene on chromosome 2q23. |
Ontology: | Human Disease [DOID:0090133] ( DOID:0090133 ) |