B4GALNT1-CDG

Synonym(s)
- GM2/GD2 synthase deficiency,
- autosomal recessive spastic paraplegia type 26
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- B4GALNT1 / Beta-1,4-N-acetylgalactosaminyltransferase 1
  12q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Beta-1,4-N-acetylgalactosaminyltransferase 1
Disease group(s)
- 18.3.2 Other disorders of lipid glycosylation