HS6ST2-CDG

Synonym(s)
- X-linked intellectual disability, Paganini-Miozzo type
Type

Disease
External link(s)
- IEMbase
Gene
- HS6ST2 / Heparan Sulfate 6-O-Sulfotransferase 2
  Xq26.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Heparan sulfate 6-O-sulfotransferase 2
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation