619232.1.1

Country

Saudi Arabia

HPO Terms

Hepatomegaly; Elevated circulating aspartate aminotransferase concentration; Elevated circulating alanine aminotransferase concentration; Hyperbilirubinemia; Rickets

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001701.4:c.1156G>A	2	NA	Bile Acid Conjugation Defect 1

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Remarks

Patient from 'family 2' in the publication

References

Setchell et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619232.1.2	Saudi Arabia	Rickets; Decreased body weight	Female	Yes	Yes	Sister of 619232.1.1
619232.1.3	Saudi Arabia		Male			Father of 619232.1.1
619232.1.4	Saudi Arabia		Female			Mother of 619232.1.1