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 Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001369.2:c.5503C>T	2		Ciliary Dyskinesia, Primary, 3

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References

Alsamri et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608644.2.2	United Arab Emirates	Recurrent respiratory infections; Dynein arm defect of respiratory motile cilia; Ciliary dyskinesia; Abnormal central microtubular pair morphology of respiratory motile cilia	Female	Yes		Sibling of 608644.2.1