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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 (DOID:0070556)
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Synonyms: CAMRQ1; CAMRQ syndrome 1; cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1; cerebellar ataxia, mental retardation, and disequilibrium syndrome 1; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; cerebellar hypoplasia, VLDLR-associated; DES-VLDLR; dysequilibrium syndrome-VLDLR; VLDLR cerebellar hypoplasia; VLDLR-associated cerebellar hypoplasia; VLDLR-CH
Alt IDs: OMIM:224050, UMLS_CUI:C4551552
Definition: A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.

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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
MGI 6.24 		The Jackson Laboratory