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Up to: Syndromic disease · Lysosomal storage disease with skeletal involvement · Mucopolysaccharidosis
Mucopolysaccharidosis type 2
A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.