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Mucopolysaccharidosis type 2, attenuated form

ORPHA:217093· ICD-10 E76.1

Definition

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.

Prevalence
Unknown
Inheritance
X-linked recessive
Age of onset
Childhood