Squalene synthase deficiency

Synonym(s)
- Farnesyldiphosphate farnesyltransferase 1 deficiency
Type

Disease
External link(s)
- IEMbase
Gene
- FDFT1 / Farnesyl-Diphosphate Farnesyltransferase 1
  8p23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Squalene synthase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis