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Results 1 - 4 of 4 for Congenital bile acid synthesis defect 2
  1. Congenital bile acid synthesis defect type 2 
    ... oxosteroid 5-beta-reductase deficiency Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 National ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  2. AKR1D1 gene 
    ... the AKR1D1 gene have been found to cause congenital bile acid synthesis defect type 2. This condition is characterized by cholestasis, a condition ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3-oxo-5- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  3. AMACR gene 
    ... neurological symptoms seen in adults with AMACR deficiency. 2-methylacyl-CoA racemase AMACR_HUMAN AMACRD CBAS4 RACE RM Tests of AMACR PubMed BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 ALPHA-METHYLACYL-CoA RACEMASE; AMACR NCBI ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  4. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis ... mutations delete one or two DNA building blocks (base pairs) from the gene ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics