Spondyloocular syndrome

Synonym(s)
- XYLT2-CDG
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- XYLT2 / Xylosyltransferase 2
  16q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Xylosyltransferase 2
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation