Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.1647T>G | 1 | NA | ||
| NM_000492.4:c.3472C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.74 | United Arab Emirates | Pancytopenia; Cirrhosis; Bronchiectasis; Splenomegaly; Growth delay; Intellectual disability | Male | Yes | Yes | |
| 219700.75 | United Arab Emirates | Diarrhea; Recurrent respiratory infections; Elevated sweat chloride; Exocrine pancreatic insufficiency | Male | Yes | Yes | Mother's cousin affected with cystic fibrosis |
| 219700.77 | United Arab Emirates | Non-obstructive azoospermia | Male | |||
| 219700.78 | United Arab Emirates | Noncommunicating hydrocephalus; Scoliosis; Bronchiectasis; Abnormal facial shape; Ventricular septal defect; Elevated sweat chloride; Failure to thrive | Female | Yes | Yes | Emirati of Yemeni origin |