219700.79.1

Country

United Arab Emirates

HPO Terms

Elevated sweat chloride; Recurrent lower respiratory tract infections; Exocrine pancreatic insufficiency; Bronchiectasis; Respiratory failure; Male infertility

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Sex

Male

Family History

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000492.4:c.80G>T	2		Cystic Fibrosis

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Remarks

Patient died at 27 years of age due to respiratory failure

References

Hafiz et al. 2023

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
219700.79.2	United Arab Emirates	Recurrent lower respiratory tract infections; Exocrine pancreatic insufficiency; Productive cough; Reduced bone mineral density	Female	Yes		Sister of 219700.79.1