LARGE1-CDG

Synonym(s)
- MDDG-6 (types A+B)
Type

Disease
External link(s)
- IEMbase
Gene
- LARGE1 / LARGE Glycosyltransferase 1
  22q12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Large glycosyltransferase 1
Disease group(s)
- 18.2.1 Disorders of O-mannosylation