608644.2.1

Country

United Arab Emirates

HPO Terms

Recurrent respiratory infections; Dynein arm defect of respiratory motile cilia; Ciliary dyskinesia; Abnormal central microtubular pair morphology of respiratory motile cilia
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001369.2:c.5503C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608644.2.2United Arab EmiratesRecurrent respiratory infections; Dynein arm defect of respiratory motile cilia; Ciliary dyskinesia; Abnormal central microtubular pair morphology of respiratory motile ciliaFemaleYesSibling of 608644.2.1
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