Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.4:c.4364C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.74 | United Arab Emirates; Yemen | Pancytopenia; Cirrhosis; Bronchiectasis; Splenomegaly; Growth delay; Intellectual disability | Male | Yes | Yes | |
| 219700.75 | United Arab Emirates; Yemen | Diarrhea; Recurrent respiratory infections; Elevated sweat chloride; Exocrine pancreatic insufficiency | Male | Yes | Yes | Mother's cousin affected with cystic fibrosis |
| 219700.76 | United Arab Emirates; Yemen | Constipation; Wheezing; Diarrhea; Elevated sweat chloride; Rectal prolapse; Intestinal obstruction | Male | Yes | Patient had milder form of cystic fibrosis | |
| 219700.77 | United Arab Emirates; Yemen | Non-obstructive azoospermia | Male |