Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014339.7:c.721del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613953.1 | Saudi Arabia | Chronic mucocutaneous candidiasis; Pustule; Folliculitis | Male | Yes | Patient from 'kindred A' in Lévy et al. 2016. | |
| 613953.5 | Saudi Arabia | Immunodeficiency | Male | Yes | ||
| 613953.7 | Saudi Arabia | Onycholysis; Ichthyosis; Chronic mucocutaneous candidiasis | Male |