Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
ECM1, 1163-BP DEL | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
247100.7.1 | Saudi Arabia | Hoarse voice ; Yellow papule | Female | Yes | Yes | |
247100.7.2 | Saudi Arabia | Hoarse voice ; Yellow papule | Male | Yes | Yes | Brother of 247100.7.1 |
247100.7.3 | Saudi Arabia | Hoarse voice ; Yellow papule | Male | Yes | Yes | Brother of 247100.7.1 |