Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004425.4:c.1300_1301delAA | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.6.1 | Saudi Arabia | Hoarse voice ; Yellow papule | Female | Yes | Yes | |
| 247100.6.2 | Saudi Arabia | Hoarse voice ; Yellow papule | Female | Yes | Yes | Sister of 247100.6.1 |
| 247100.6.4 | Saudi Arabia | Male | Yes | Unaffected father of 247100.6.1 | ||
| 247100.6.5 | Saudi Arabia | Female | Yes | Unaffected mother of 247100.6.1 |