Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014339.7:c.268del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613953.4.1 | Saudi Arabia | Chronic mucocutaneous candidiasis | Female | Yes | Yes | Patient from 'kindred J' in the publication. |
| 613953.4.3 | Saudi Arabia | Chronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosis | Male | Yes | Yes | Cousin of 613953.4.1 |
| 613953.4.4 | Saudi Arabia | Chronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosis | Male | Yes | Yes | Cousin of 613953.4.1 |
| 613953.4.G | Saudi Arabia | Unaffected relatives of 613953.4.1 (parents, one sister, one uncle, one aunt, and two cousins). |