OnlineIMD

B3GALNT2-CDG

  • Synonym(s)
    • MDDG-11 (type A)
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • B3GALNT2 / Beta-1,3-N-acetylgalactosaminyltransferase 2
      • 1q42.3
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Beta-1,3-N-acetylgalactosaminyltransferase 2
  • Disease group(s)
    • 18.2.1    Disorders of O-mannosylation