235550.5.1

Country

Lebanon

HPO Terms

Immunodeficiency; Thrombocytopenia
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_080424.2:c.40del2NA

Remarks

Patient 'E II.1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
235550.5.2LebanonMaleFather of 235550.5.1
235550.5.3LebanonFemaleMother of 235550.5.1
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