Male
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 |
|---|---|---|---|---|---|---|
| 247100.7.1 | 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 |
| 247100.7.4 | 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) |