POMGNT1-CDG

Synonym(s)
- MDDG-3 (types A-C)
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- POMGNT1 / Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1
  1p34.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein O-linked mannose N-acetylglucosaminyltransferase 1
Disease group(s)
- 18.2.1 Disorders of O-mannosylation
Child entries
- Retinitis pigmentosa type 76