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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Sanfilippo Syndrome Type A
Sanfilippo Syndrome Type A
Prevalence:
1/100000
lysosomal
Official
·
OMIM:252900
Official
·
ORPHA581
Heparan-N-sulfatase deficiency due to SGSH gene mutations.
Associated Genes
SGSH
N-Sulfoglucosamine Sulfohydrolase
Chromosome 17
Autosomal Recessive