OnlineIMD
Sanfilippo syndrome type D
Synonym(s)
Mucopolysaccharidosis type 3D
,
N-acetylglucosamine 6-sulfatase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
GNS
/ Glucosamine (N-Acetyl) Synthase
12q14.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glutamine-fructose-6-phosphate aminotransferase
Parent entry
Sanfilippo syndrome