complex cortical dysplasia with other brain malformations 13 Disease Ontology Browser

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Disease Ontology Browser

complex cortical dysplasia with other brain malformations 13 (DOID:0061144)
Alliance: disease page
Synonyms: CDCBM13
Alt IDs: OMIM:614563
Definition: A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

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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