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