Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004415.3:c.7097G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607655.1.1 | Saudi Arabia | Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | Female | Yes | Yes | Index patient |
| 607655.1.2 | Saudi Arabia | Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | Male | Yes | Yes | Brother of 607655.1.1 |
| 607655.1.4 | Saudi Arabia | Male | Yes | No | Unaffected father of 607655.1.1 | |
| 607655.1.5 | Saudi Arabia | Female | Yes | No | Unaffected mother of 607655.1.1 | |
| 607655.1.6 | Saudi Arabia | Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | Female | Yes | Yes | Cousin of 607655.1.1 |
| 607655.1.7 | Saudi Arabia | Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | Male | Yes | Yes | Cousin of 607655.1.1 |
| 607655.1.8 | Saudi Arabia | Male | Yes | No | Unaffected father of 607655.1.6 | |
| 607655.1.9 | Saudi Arabia | Female | Yes | No | Unaffected mother of 607655.1.6 |