GFPT1-CDG

Synonym(s)
- Congenital myasthenic syndrome type 12
Type

Disease
External link(s)
- IEMbase
Gene
- GFPT1 / Glutamine-Fructose-6-Phosphate Transaminase 1
  2p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutamine-fructose-6-phosphate transaminase [isomerizing] 1
Disease group(s)
- 18.4.5 Other disorders of multiple glycosylation pathways