PIGA-CDG

Synonym(s)
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2,
- GPI biosynthesis defect type 4,
- early infantile epileptic encephalopathy type 2
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIGA / Phosphatidylinositol Glycan Anchor Biosynthesis Class A
  Xp22.2
  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
Child entries
- PIGA-related paroxysmal nocturnal hemoglobinuria