Multiple sulfatase deficiency
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
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.