619232.1.2

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

Remarks

Sister of 619232.1.1

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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