Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.4:c.2490_2490+1insT | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.68.1 | Palestine | Recurrent upper respiratory tract infections; Exertional dyspnea; Weight loss; Chronic diarrhea; Cirrhosis; Cholestasis; Splenomegaly; Steatorrhea | Male | Yes | Yes | Proband |
| 219700.68.2 | Palestine | Male | Father of the proband |