PIGN-CDG

Synonym(s)
- GPI biosynthesis defect type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIGN / Phosphatidylinositol Glycan Anchor Biosynthesis Class N
  18q21.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol glycan anchor biosynthesis class N protein
Disease group(s)
- 18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis
Child entries
- Multiple congenital anomalies-hypotonia-seizures syndrome type 1