Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173076.3:c.6900C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601277.2.1 | Saudi Arabia | Scaling skin; Palmoplantar keratoderma; Erythroderma | Female | Yes | Yes | Index patient |
| 601277.2.3 | Saudi Arabia | Female | Yes | Mother of 601277.2.1 |