Мукополісахаридоз, тип 2, важка форма
ORPHA:217085· ICD-10 E76.1· Mucopolysaccharidosis type 2, severe form
Визначення(English summary)
Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
- Поширеність
- Unknown
- Успадкування
- X-linked recessive
- Вік початку
- Childhood