Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.4:c.80G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.79.1 | United Arab Emirates | Elevated sweat chloride; Recurrent lower respiratory tract infections; Exocrine pancreatic insufficiency; Bronchiectasis; Respiratory failure; Male infertility | Male | Yes | Patient died at 27 years of age due to respiratory failure |