Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198843.2:c.401delT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 265120.1.1 | Lebanon | Tachypnea; Cyanosis; Pulmonary infiltrates; Right ventricular hypertrophy; Hypoxemia; Respiratory failure; Respiratory acidosis; | Female | Yes | Yes | Had a similarly affected sister by history; not genotyped |
| 265120.1.3 | Lebanon | Male | Father of 265120.1.1 |