Синдром Річардса-Рандла
ORPHA:1399· ICD-10 G60.2· Richards-Rundle syndrome
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy