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. The disease is MONDO_0009493 (Richards-Rundle syndrome). Also known as: ketoaciduria-intellectual disability-ataxia-deafness syndrome.