613225.2.3

Country

Lebanon

HPO Terms

Reduced factor XII activity
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000129.3:c.1475_1476delGA1

Remarks

Father of 613225.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613225.2.1LebanonReduced factor XIII activity; Persistent bleeding after trauma; Epidural hemorrhageMaleYesYesProband
613225.2.2LebanonReduced factor XIII activity; Prolonged bleeding following circumcision;MaleYesYesBrother of 613225.2.1
613225.2.4LebanonReduced factor XII activityFemaleYesMother of 613225.2.1
613225.2.5LebanonReduced factor XII activityFemaleYesSister of 613225.2.1
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