Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.820_830del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.1.1 | Saudi Arabia | Severe sensorineural hearing impairment; Prolonged QTc interval | Female | No | No | Proband [also included in Al-Aama JY et al. 2015 as proband from Family E] |
| 220400.1.3 | Saudi Arabia | Male | No | No | Brother of 220400.1.1 | |
| 220400.1.4 | Saudi Arabia | Prolonged QTc interval | Female | No | No | Sister of 220400.1.1 |