Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080424.2:c.642del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 235550.2.1 | Lebanon | Immunodeficiency | Male | Yes | Patient 'B II.1' in the publication | |
| 235550.2.2 | Lebanon | Hepatosplenomegaly; Ascites | Female | Yes | Patient 'B II.2' in the publication, sister of 235550.2.1 | |
| 235550.2.4 | Lebanon | Female | Mother of 235550.2.1 |