Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003593.2:c.562del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601705.1.1 | Lebanon | Erythroderma ; Alopecia ; Immunodeficiency ; Diarrhea | Female | Yes | Yes | Proband |
| 601705.1.3 | Lebanon | Female | Yes | Unaffected mother of 601705.1.1 |