Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Ketoaciduria-intellectual disability-ataxia-deafness syndrome Ketoaciduria - niepełnosprawność intelektualna - ataksja - głuchota Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome ORPHA code 1399 OMIM code 245100 ICD10 code G60.2 ICD11 code LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl