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Sly syndrome (MPS VII) is a lysosomal storage disorder caused by a deficiency of the enzyme beta-glucuronidase. Deficiency of the beta-glucuronidase enzyme leads to accumulation of heparan, chondroitin and dermatan sulfate in multiple body tissues and can cause coarse facial features, corneal clouding, cardiac involvement, skeletal dysplasia, joint stiffness and developmental delay. Age of onset and clinical severity is variable.
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