Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001013703.4:c.1671A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 234810.2.1 | Lebanon | Exertional dyspnea; Pulmonary arterial hypertension; Pneumonia; Acute respiratory distress syndrome; Death (14 years after diagnosis) | Female | No | No | Index patient |
| 234810.2.2 | Lebanon | Exertional dyspnea; Pulmonary arterial hypertension | Female | Yes | No | Brother of 234810.2.1 |
| 234810.2.4 | Lebanon | Male | Nephew of 234810.2.1, Son of 234810.2.2 | |||
| 234810.2.5 | Lebanon | Female | Niece of 234810.2.1, Daughter of 234810.2.2 |