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.

Also known as: Hunter syndrome, Hunter's syndrome, I2S deficiency, IDS deficiency, MPS 2, MPS II, MPS with skin involvement, MPS2

86 clinical trials for this condition and its sub-types.