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Richards-Rundle syndrome

Disease definition

Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.

ORPHA:1399

  • Synonym(s):
    • Ketoaciduria-intellectual disability-ataxia-deafness syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G60.2
  • OMIM: 245100
  • UMLS: C0796136
  • MeSH: C535674
  • GARD: 8423
  • MedDRA: -

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