235550.1.1

Country

Lebanon

HPO Terms

Immunodeficiency; Thrombocytopenia
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_080424.2:c.642del2NA

Remarks

Patient 'A II.1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
235550.1.2LebanonMaleFather of 235550.1.1
235550.1.3LebanonFemaleMother of 235550.1.1
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