211400.1

United Arab Emirates

Bronchiectasis; Recurrent respiratory infections

Male

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_000336.2:c.616C>T	2	Bronchiectasis with or without Elevated Sweat Chloride 1
NM_003664.5:c.32A>G	1

Paternal uncles with chronic lung disease and infertility

Related Subjects

Subject Id	Country	HPO Terms	Sex	Remarks
211400.2	United Arab Emirates	Recurrent pneumonia; Aspiration; Abnormality of the respiratory system; Lipid-laden macrophages in bronchoalveolar fluid	Unknown
211400.3	United Arab Emirates	Chronic sinusitis; Failure to thrive		Subject exhibiting two heterozygous mutations in two genes related to airway lung disease.