Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| ECM1, 1163-BP DEL | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.8.1 | Saudi Arabia | Hoarse voice ; Atypical scarring of skin ; Thickened skin ; Localized skin lesion | Unknown | Yes | Yes | |
| 247100.8.2 | Saudi Arabia | Hoarse voice ; Atypical scarring of skin ; Thickened skin ; Localized skin lesion | Unknown | Yes | Yes | Sibling of 247100.8.1 |
| 247100.8.4 | Saudi Arabia | Hoarse voice ; Atypical scarring of skin ; Thickened skin ; Localized skin lesion | Unknown | Yes | Yes | Sibling of 247100.8.1 |