Bile acid synthesis defect, congenital, 2
Other Names for this Disease
- Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency
- Congenital bile acid synthesis defect type 2
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Tests & Diagnosis
On this page
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.