Temtamy preaxial brachydactyly syndrome

Synonym(s)
- CHSY1-CDG
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CHSY1 / Chondroitin Sulfate Synthase 1
  15q26.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Chondroitin sulfate synthase 1
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation