FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 ID (Ontology) DOID:0070556 (Human Disease)
Definition A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.
Also Known As "CAMRQ syndrome 1" ; "CAMRQ1" ; "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" (for all, see Synonyms field below)
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 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1       2
 for disease ribbon | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1       2
 model of | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1       2
Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
                              |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1  2 rec.
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Is a cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
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Synonyms
  • "CAMRQ syndrome 1" EXACT
    "CAMRQ1" EXACT OMO:0003012
    "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" EXACT
    "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" EXACT
    "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" EXACT
    "cerebellar hypoplasia, VLDLR-associated" EXACT
    "DES-VLDLR" EXACT OMO:0003012
    "dysequilibrium syndrome-VLDLR" EXACT
    "VLDLR cerebellar hypoplasia" EXACT
    "VLDLR-associated cerebellar hypoplasia" EXACT
    "VLDLR-CH" EXACT OMO:0003012
Secondary IDs
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MIM:224050
UMLS_CUI:C4551552