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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 (DOID:0070558)
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Synonyms: CAMRQ3; CAMRQ syndrome 3; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; cerebellar ataxia, mental retardation, and disequilibrium syndrome 3; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
Alt IDs: OMIM:613227, MESH:C567690, UMLS_CUI:C2750509
Definition: A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.

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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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11/12/2024
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