Dihydroceramide desaturase deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- DEGS1 / Desaturase 1
  1q42.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sphingolipid delta(4)-desaturase
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling