cerebellar atrophy with seizures and variable developmental delay Disease Ontology Browser

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Disease Ontology Browser

cerebellar atrophy with seizures and variable developmental delay (DOID:0070741)
Alliance: disease page
Synonyms: CASVDD
Alt IDs: OMIM:618501, UMLS_CUI:C5193132
Definition: An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21.

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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