PGM1-CDG

Synonym(s)
- PGM1-CDG,
- glycogen storage disease type 14,
- GSD14
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PGM1 / Phosphogluconate Mutase 1
  1p31.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoglucomutase-1
Disease group(s)
- 18.4.5 Other disorders of multiple glycosylation pathways