Spondyloepiphyseal dysplasia with congenital joint dislocations

Synonym(s)
- CHST3-CDG,
- Autosomal recessive Larsen syndrome,
- spondyloepiphyseal dysplasia Omani type,
- humerospinal dysostosis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CHST3 / Carbohydrate Sulfotransferase 3
  10q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carbohydrate sulfotransferase 3
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation