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619232.1.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Rickets; Decreased body weight
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Sex
Female
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
Sister of 619232.1.1
References
Setchell et al. 2013
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
619232.1.1
Saudi Arabia
Hepatomegaly; Elevated circulating aspartate aminotransferase concentration; Elevated circulating alanine aminotransferase concentration; Hyperbilirubinemia; Rickets
Male
Yes
Yes
Patient from 'family 2' in the publication
619232.1.3
Saudi Arabia
Male
Father of 619232.1.1
619232.1.4
Saudi Arabia
Female
Mother of 619232.1.1
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