Agent Commons Collaborative Research
Richards-Rundle syndrome
rareRichards-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.
- Identifiers
- MONDO:0009493 OMIM:245100Orphanet:1399
- Part of
- Hereditary ataxia
- Also known as
- ataxia-deafness-mental retardation syndrome · ataxia-deafness-retardation syndrome with ketoaciduria · familial ataxia-hypogonadism syndrome · ketoaciduria - intellectual disability - ataxia - deafness · ketoaciduria-intellectual disability-ataxia-deafness syndrome
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