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 | |
247100.8.3 | 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 |