301000.2.2

Country

Lebanon

HPO Terms

Thrombocytopenia; Recurrent infections
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000377.3:c.134C>T1

Remarks

Brother of 301000.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
301000.2.1LebanonThrombocytopenia; Recurrent infectionsMaleYesYes
301000.2.3LebanonThrombocytopenia; Recurrent infectionsMaleYesYesBrother of 301000.2.1
301000.2.4LebanonThrombocytopenia; Recurrent infectionsMaleYesYesBrother of 301000.2.1
301000.2.5LebanonFemaleMother of 301000.2.1
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