ST3GAL5-CDG

Synonym(s)
- GM3 synthase deficiency,
- Amish infantile epilepsy syndrome,
- salt and pepper developmental regression syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ST3GAL5 / ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  2p11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Disease group(s)
- 18.3.2 Other disorders of lipid glycosylation