Female
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 |
---|---|---|---|---|---|---|
247100.7.2 | 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 |
247100.7.4 | Saudi Arabia | Female | Yes | Unaffected mother of 247100.7.1 (Father of 247100.7.1 was deceased but expected to be a carrier of this mutation) |