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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