SDR9C7 deficiency

Synonym(s)
- Autosomal recessive congenital ichthyosis type 13
Type

Disease
External link(s)
- IEMbase
Gene
- SDR9C7 / Short Chain Dehydrogenase/Reductase Family 9C Member 7
  12q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Short-chain dehydrogenase/reductase 9C7
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling