complex cortical dysplasia with other brain malformations 3 Disease Ontology Browser

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Disease Ontology Browser

complex cortical dysplasia with other brain malformations 3 (DOID:0090134)
Alliance: disease page
Synonyms: CDCBM3
Alt IDs: OMIM:615411
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.

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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