Richards-Rundle syndrome

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Richards-Rundle syndrome

Synonyms: Ketoaciduria-intellectual disability-ataxia-deafness syndrome | Ketoaciduria-intellectual disability-ataxia-hearing loss 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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