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1.

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]

MedGen UID:
934591
Concept ID:
C4310624
Disease or Syndrome
2.

Hypolipidemia

abnormally decreased amount of fat in the blood. [from CRISP]

MedGen UID:
575275
Concept ID:
C0342892
Finding; Pathologic Function

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