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Mucopolysaccharide storage disease type III

This type, also known as Sanfilippo syndrome, is an autosomal recessive venereal disease. The clinical features and biochemical abnormalities of this type are different from those of type I and type II. It is characterized by severe retardation, but mild lesions around the body. The difference from type I is that the appearance is not similar to the inherited disease, the dwarfism is not obvious, and there are no complications such as corneal opacity or heart disease. Slight contracture of elbow and knee joint. Even if there is hepatosplenomegaly, it is very slight.


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