Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173076.3:c.3470C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601277.3.1 | Saudi Arabia | Scaling skin; Palmoplantar keratoderma; Erythroderma | Male | Yes | Yes | Index patient |
| 601277.3.2 | Saudi Arabia | Scaling skin; Palmoplantar keratoderma; Erythroderma | Male | Yes | Yes | Brother of 601277.3.1 |
| 601277.3.4 | Saudi Arabia | Scaling skin; Palmoplantar keratoderma; Erythroderma | Male | Yes | Yes | First cousin of 601277.3.1 |
| 601277.3.5 | Saudi Arabia | Male | Yes | Father of 601277.3.1 | ||
| 601277.3.6 | Saudi Arabia | Female | Yes | Mother of 601277.3.1 |