Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001308122.1:c.64_66TTC[1] | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212140.1.1 | Lebanon | Dyspnea; Recurrent upper respiratory tract infections; Failure to thrive; Congestive heart failure | Male | No | Yes | Patient 'A IV-6' in the publication |
| 212140.1.3 | Lebanon | Female | No | No | Mother of 2121401.1 | |
| 212140.1.4 | Lebanon | Female | Yes | Yes | Sister of 2121401.1 | |
| 212140.1.5 | Lebanon | Female | Yes | Yes | Sister of 2121401.1 | |
| 212140.1.6 | Lebanon | Male | Yes | Yes | Brother of 2121401.1 |