3-Ketodihydrosphingosine reductase deficiency

Synonym(s)
- Erythrokeratodermia variabilis et progressiva type 4
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- KDSR / 3-ketodihydrosphingosine reductase
  18q21.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3-ketodihydrosphingosine reductase
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling