Бета-маннозидоз
ORPHA:118· ICD-10 E77.1· Beta-mannosidosis
Визначення(English summary)
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal