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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (DOID:0070559)
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Synonyms: CAMRQ4; CAMRQ syndrome 4; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4; cerebellar ataxia, mental retardation, and disequilibrium syndrome 4; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Alt IDs: OMIM:615268
Definition: A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.

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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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11/05/2024
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