Oxysterol 7-alpha-hydroxylase deficiency

(CBAS3)

Synonym(s)
- Congenital bile acid synthesis defect type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CYP7B1 / Cytochrome P450 Family 7 Subfamily B Member 1
  8q12.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Oxysterol 7-alpha-hydroxylase
Disease group(s)
- 14.7.2. Disorders of bile acid synthesis
Child entries
- Autosomal recessive spastic paraplegia type 5A