Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001814.4:c.899G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245000.2.1 | Saudi Arabia | Psoriasiform lesion; Palmoplantar hyperkeratosis; Generalized periodontitis | Male | Yes | Yes | Proband |
| 245000.2.2 | Saudi Arabia | Psoriasiform lesion; Palmoplantar hyperkeratosis; Generalized periodontitis | Male | Yes | Yes | Sibling of 245000.2.1 |
| 245000.2.3 | Saudi Arabia | Psoriasiform lesion; Palmoplantar hyperkeratosis; Generalized periodontitis | Male | Yes | Yes | Sibling of 245000.2.1 |
| 245000.2.4 | Saudi Arabia | Psoriasiform lesion; Palmoplantar hyperkeratosis; Generalized periodontitis | Female | Yes | Yes | Sibling of 245000.2.1 |
| 245000.2.5 | Saudi Arabia | Female | Yes | Yes | Unaffected sibling of 245000.2.1 | |
| 245000.2.6 | Saudi Arabia | Male | Yes | Yes | Unaffected sibling of 245000.2.1 | |
| 245000.2.7 | Saudi Arabia | Male | Yes | Yes | Unaffected father of 245000.2.1 |