Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.1700T>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.6.1 | Saudi Arabia | Sensorineural hearing impairment; Syncope; Prolonged QTc interval | Male | Yes | Proband from 'Family F' in the publication | |
| 220400.6.2 | Saudi Arabia | Male | No | Father of 220400.6.1 | ||
| 220400.6.3 | Saudi Arabia | Female | No | Mother of 220400.6.1 |