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Congenital bile acid synthesis defect type 2

What is Congenital bile acid synthesis defect type 2?

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

Other condition names

  • BASD2
  • Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.