complex cortical dysplasia with other brain malformations 9 Disease Ontology Browser

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Disease Ontology Browser

complex cortical dysplasia with other brain malformations 9 (DOID:0061138)
Alliance: disease page
Synonyms: CDCBM9
Alt IDs: OMIM:618174
Definition: A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.

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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