OnlineIMD

CRPPA-CDG

  • Synonym(s)
    • MDDG-7 (types A-C)
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • CRPPA / Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase
      • 7p21.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Cytidine monophosphate N-acetylneuraminic acid synthetase
  • Disease group(s)
    • 18.2.1    Disorders of O-mannosylation