211400.3

United Arab Emirates

Chronic sinusitis; Failure to thrive

Variant Name	Allele Count	Associated Disease
NM_000336.2:c.1871G>A	1	Bronchiectasis with or without Elevated Sweat Chloride 1
NM_001369.2:c.8765G>A	1

Subject exhibiting two heterozygous mutations in two genes related to airway lung disease.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
211400.1	United Arab Emirates	Bronchiectasis; Recurrent respiratory infections	Male	Yes	Yes	Paternal uncles with chronic lung disease and infertility
211400.2	United Arab Emirates	Recurrent pneumonia; Aspiration; Abnormality of the respiratory system; Lipid-laden macrophages in bronchoalveolar fluid	Unknown