Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020427.3:c.229T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248300.6.2 | Tunisia | Male | Father of 248300.6.1 | |||
| 248300.6.3 | Tunisia | Palmoplantar keratoderma; Interdigital fissures; Hyperkeratotic papule | Female | No | Mother of 248300.6.1 | |
| 248300.6.4 | Tunisia | Palmoplantar keratoderma; Hyperkeratotic papule | Female | Yes | Sister of 248300.6.1 | |
| 248300.6.5 | Tunisia | Palmoplantar keratoderma | Female | Yes | Sister of 248300.6.1 |