POMGNT2-CDG

Synonym(s)
- MDDG-8 (type A)
Type

Disease
External link(s)
- IEMbase
Gene
- POMGNT2 / Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2
  3p22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein O-linked mannose N-acetylglucosaminyltransferase 2
Disease group(s)
- 18.2.1 Disorders of O-mannosylation