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Multiple sulfatase deficiency

From SNPedia

Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.GHR

Recessively inherited mutations in the SUMF1 gene located on chromosome 3 are associated with multiple sulfatase deficiency.