UGP2-CDG

Synonym(s)
- Early infantile epileptic encephalopathy type 83
Type

Disease
External link(s)
- IEMbase
Gene
- UGP2 / UDP-glucose pyrophosphorylase 2
  2p15
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- UDP-glucose pyrophosphorylase 2
Disease group(s)
- 18.4.5 Other disorders of multiple glycosylation pathways