OnlineIMD

CSGALNACT1-CDG

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • CSGALNACT1 / Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1
      • 8p21.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Chondroitin sulfate N-acetylgalactosaminyltransferase 1
  • Disease group(s)
    • 18.2.3    Disorders of glycosaminoglycan synthesis and O-xylosylation