EXTL3-CDG

Synonym(s)
- Immunoskeletal dysplasia with neurodevelopmental abnormalities
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- EXTL3 / exostosin like glycosyltransferase 3
  8p21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Exostosin-like 3 protein
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation