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Richards-Rundle syndrome

Orpha number ORPHA1399
Synonym(s) Ketoaciduria - intellectual disability - ataxia - deafness
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
  • G60.2
  • C0796136
  • C535674
MedDRA -


This syndrome is a very rare disorder characterized by autosomal recessive ataxia, hearing loss, mental deterioration, peripheral muscle wasting, hypergonadotrophic hypogonadism and ketoaciduria.

Expert reviewer(s)

  • Pr Giuseppe DE MICHELE

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