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Richards-Rundle syndrome

Synonym(s) Ketoaciduria-intellectual disability-ataxia-deafness syndrome
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • G60.2
  • C0796136
  • C535674
MedDRA -


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.

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