PGAP1-CDG

Synonym(s)
- Autosomal recessive intellectual disability type 42,
- GPI biosynthesis defect type 9
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PGAP1 / Phosphatidylinositol Glycan Anchor Biosynthesis Class A
  2q33.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol glycan anchor biosynthesis class A protein
Disease group(s)
- 18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis