Smith-Lemli-Opitz syndrome

Synonym(s)
- 7-dehydrocholesterol reductase deficiency,
- RSH syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DHCR7 / 7-dehydrocholesterol reductase
  11q13.4
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 7-dehydrocholesterol reductase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis