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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 B
Sanfilippo Syndrome Type B
Prevalence:
1/200000
lysosomal
Official
·
OMIM:252920
Official
·
ORPHA581
Alpha-N-acetylglucosaminidase deficiency due to NAGLU gene mutations.
Associated Genes
NAGLU
N-Acetyl-Alpha-Glucosaminidase
Chromosome 17
Autosomal Recessive