Richards-Rundle 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.
MONDO:0100309
hereditary ataxia
is_a
RRNS
related
Richards-Rundle syndrome
exact
ataxia-deafness-mental retardation syndrome
related
ataxia-deafness-retardation syndrome with ketoaciduria
related
familial ataxia-hypogonadism syndrome
related
ketoaciduria - intellectual disability - ataxia - deafness
related
ketoaciduria-intellectual disability-ataxia-deafness syndrome
exact
ketoaciduria-mental deficiency syndrome
related