complex cortical dysplasia with other brain malformations 12 Disease Ontology Browser

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Disease Ontology Browser

complex cortical dysplasia with other brain malformations 12 (DOID:0061141)
Alliance: disease page
Synonyms: CDCBM12
Alt IDs: OMIM:620316
Definition: A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34.

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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