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DO Term : cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 [DOID:0070556] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • VLDLR cerebellar hypoplasia,
  • dysequilibrium syndrome-VLDLR,
  • cerebellar ataxia, mental retardation, and disequilibrium syndrome 1,
  • VLDLR-CH,
  • cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1,
  • 224050,
  • CAMRQ syndrome 1,
  • cerebellar hypoplasia, VLDLR-associated,
  • UMLS_CUI:C4551552,
  • cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1,
  • OMIM:224050,
  • DES-VLDLR,
  • CAMRQ1,
  • VLDLR-associated cerebellar hypoplasia
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