(A) Pedigrees of the studied family. A child patient (Patient: IV.4) with elevated serum ALT, AST and TBA levels, and her nuclear family members (III.4, III.5 and IV.3) were evaluated by WGS analysis. Mutated alleles are depicted as "a" for SEMA7A. Squares symbols: male; circles: female; solid: the patient. The reference alleles are depicted by a plus sign. The arrow points to the proband. 