OnlineIMD

POMT1-CDG

  • Synonym(s)
    • MDDG-1 (types A-C)
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • POMT1 / protein O-mannosyltransferase 1
      • 9q34.13
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Protein O-mannosyltransferase 1
  • Disease group(s)
    • 18.2.1    Disorders of O-mannosylation