Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004425.4:c.1019delA | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.2.1 | Kuwait | Hoarse voice ; Papule ; Palmar hyperkeratosis ; Atypical scarring of skin | Unknown | Yes | Yes | |
| 247100.2.3 | Kuwait | Hoarse voice ; Papule ; Palmar hyperkeratosis ; Atypical scarring of skin | Unknown | Yes | Yes | Sibling of 247100.2.1 |
| 247100.2.4 | Kuwait | Male | Yes | Unaffected father of 247100.2.1 | ||
| 247100.2.5 | Kuwait | Female | Yes | Unaffected mother of 247100.2.1 |