Desmosterolosis

Synonym(s)
- 24-dehydrocholesterol reductase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DHCR24 / 24-dehydrocholesterol reductase
  1p32.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 24-dehydrocholesterol reductase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis