PGAP3-CDG

Synonym(s)
- Hyperphosphatasia with intellectual disability type 4,
- GPI biosynthesis defect type 1
Type

Disease
External link(s)
- IEMbase
Gene
- PGAP3 / PGAP3 (Phosphatidylglycerol acyl-lipid transfer like protein 3)
  17q12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylglycerol acyl-lipid transfer-like protein 3
Disease group(s)
- 18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis