211400.2

United Arab Emirates

Recurrent pneumonia; Aspiration; Abnormality of the respiratory system; Lipid-laden macrophages in bronchoalveolar fluid

Unknown

Variant Name	Allele Count	Associated Disease
NM_000336.2:c.1402G>A	1	Bronchiectasis with or without Elevated Sweat Chloride 1

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
211400.3	United Arab Emirates	Chronic sinusitis; Failure to thrive				Subject exhibiting two heterozygous mutations in two genes related to airway lung disease.