Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000377.3:c.134C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 301000.2.1 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | |
| 301000.2.2 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | Brother of 301000.2.1 |
| 301000.2.3 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | Brother of 301000.2.1 |
| 301000.2.4 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | Brother of 301000.2.1 |