Desbuquois dysplasia type 2

Synonym(s)
- XYLT1-CDG
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- XYLT1 / Xylosyltransferase 1
  16p12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Xylosyltransferase 1
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation