Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001013703.4:c.560_564del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 234810.1.1 | Lebanon | Exertional dyspnea; Pulmonary arterial hypertension; Arterial intimal fibrosis; Death (3 Years after diagnosis) | Male | No | No | |
| 234810.1.2 | Lebanon | Asymptomatic | Male | No | Brother of 234810.1.1 | |
| 234810.1.3 | Lebanon | Female | Mother of 234810.1.1 |