HS2ST1-CDG

Type

Disease
External link(s)
- IEMbase
Gene
- HS2ST1 / Heparan Sulfate 2-O-Sulfotransferase 1
  1p22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Heparan sulfate 2-O-sulfotransferase
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation