Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.604G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.3.1 | Saudi Arabia | Sensorineural hearing impairment; Syncope; Prolonged QTc interval | Female | Yes | No | Proband from 'Family B' in the publication |
| 220400.3.2 | Saudi Arabia | Male | Yes | No | Son of 220400.3.1 | |
| 220400.3.3 | Saudi Arabia | Female | Yes | No | Daughter of 220400.3.1 | |
| 220400.3.5 | Saudi Arabia | Male | Yes | No | Son of 220400.3.1 |