Richards-Rundle syndrome
Other Names: RRS; Ataxia-deafness-retardation syndrome with ketoaciduria; Familial ataxia-hypogonadism syndrome; Ketoaciduria-mental deficiency syndrome; Ketoaciduria - intellectual disability - ataxia - deafness; Ketoaciduria-intellectual disability-ataxia-deafness syndrome
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.
NIH genetic and rare disease info[edit source]
Richards-Rundle syndrome is a rare disease.
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