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Congenital bile acid synthesis defect 6
Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765). [from OMIM]
Hypolipidemia
abnormally decreased amount of fat in the blood. [from CRISP]
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