OnlineIMD

PGAP2-CDG

  • Synonym(s)
    • Hyperphosphatasia with intellectual disability type 3,
    • GPI biosynthesis defect type 8
  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PGAP2 / Phosphoglycosylphosphatidylinositol anchor biosynthesis class O protein 2
      • 11p15.4
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Phosphoglycosylphosphatidylinositol anchor biosynthesis class O protein 2
  • Disease group(s)
    • 18.3.1    Disorders of glycosylphosphatidylinositol biosynthesis