Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080424.2:c.40del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 235550.5.1 | Lebanon | Immunodeficiency; Thrombocytopenia | Male | Yes | Patient 'E II.1' in the publication | |
| 235550.5.3 | Lebanon | Female | Mother of 235550.5.1 |