complex cortical dysplasia with other brain malformations 2 Disease Ontology Browser

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Disease Ontology Browser

complex cortical dysplasia with other brain malformations 2 (DOID:0090133)
Alliance: disease page
Synonyms: CDCBM2
Alt IDs: OMIM:615282
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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