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Dysequilibrium syndrome

Disease definition

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

ORPHA:1766

Classification level: Disorder
  • Synonym(s):
    • CAMRQ syndrome
    • Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome
    • Non-progressive cerebellar ataxia-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G11.8
  • OMIM: 224050  610185  613227  615268
  • UMLS: C0394006
  • MeSH: C535731
  • GARD: 1998
  • MedDRA: 10013140

Detailed information

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