Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001013703.4:c.560_564del | 2 |
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 | |
234810.1.3 | Lebanon | Female | Mother of 234810.1.1 | |||
234810.1.4 | Lebanon | Female | Sister of 234810.1.1 |