Sterol 27-hydroxylase deficiency

Synonym(s)
- Cerebrotendinous xanthomatosis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CYP27A1 / Cytochrome P450 Family 27 Subfamily A Member 1
  2q35
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sterol 27-hydroxylase
Disease group(s)
- 14.7.3 Disorders of sterol and bile acid breakdown
Child entries
- Peroxisomal branched-chain acyl-CoA oxidase deficiency