Cholesterol side-chain cleavage enzyme deficiency

Synonym(s)
- CYP11A1 deficiency, desmolase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CYP11A1 / Cytochrome P450 Family 11 Subfamily A Member 1
  15q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cholesterol side-chain cleavage enzyme, mitochondrial
Disease group(s)
- 24.2 Disorders of steroid metabolism
Child entries
- CYP11A1 deficiency, partial