PIGV-CDG

Synonym(s)
- Hyperphosphatasia with intellectual disability type 1,
- GPI biosynthesis defect type 2
Type

Disease
External link(s)
- IEMbase
Gene
- PIGV / Phosphatidylinositol Glycan Anchor Biosynthesis Class V
  1p36.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol glycan anchor biosynthesis class V protein
Disease group(s)
- 18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis