Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_203447.3:c.1498C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611432.1.2 | Lebanon | Eczema; Otitis media; Increased circulating IgE level; | Female | Yes | Yes | First cousin of 611432.1.1. Diagnosed with IPEX-like disorder |