608644.1.1

Country

Lebanon

HPO Terms

Recurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein arms
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001369.2:c.5563dup2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608644.1.2LebanonRecurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein armsMaleYesYesSibling of 608644.1.1
608644.1.3LebanonRecurrent respiratory infections; Bronchiectasis; Immotile cilia; Absent outer dynein arms; Situs inversus totalisMaleYesYesSibling of 608644.1.1
608644.1.4LebanonRecurrent respiratory infections; Situs inversus totalisFemaleYesYesSibling of 608644.1.1
608644.1.5LebanonFemaleMother of 608644.1.1
608644.1.6LebanonMaleFather of 608644.1.1
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