Sanfilippo syndrome type C

Synonym(s)
- Mucopolysaccharidosis type 3C, (severe), Heparan-alpha-glucosaminide N-acetyltransferase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- HGSNAT / Heparan Glucosaminyl N-Deacetylase/N-Sulfotransferase
  8p11.21-p11.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Heparan alpha-glucosaminide N-acetyltransferase
Parent entry
- Sanfilippo syndrome
Child entries
- HGSNAT-related retinitis pigmentosa