219700.G.9.2

Saudi Arabia

Elevated sweat chloride; Recurrent lower respiratory tract infections; Abnormal cardiac septum morphology

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000492.3:c.1418del	4	NA	Cystic Fibrosis

Twins comorbid for cystic fibrosis and cardiac anomalies

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
219700.G.9.1	Saudi Arabia	Elevated sweat chloride; Failure to thrive; Recurrent lower respiratory tract infections; Bronchiectasis; Airway obstruction		No		Two siblings comorbid for cystic fibrosis and insulin dependent diabetes mellitus