Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.3:c.1484_1485CT[1] | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.4.1 | Saudi Arabia | Sensorineural hearing impairment; Syncope; Prolonged QTc interval | Male | Yes | Yes | Proband from 'Family C' in the publication |
| 220400.4.2 | Saudi Arabia | Male | No | No | Father of 220400.4.1, minor QTc prolongation noted | |
| 220400.4.3 | Saudi Arabia | Female | No | No | Mother of 220400.4.1 | |
| 220400.4.4 | Saudi Arabia | Male | Yes | Yes | Brother of 220400.4.1 |