Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138691.2:c.1939T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600974.2.1 | Morocco | Hearing impairment | Male | Yes | No | Proband |
| 600974.2.2 | Morocco | Hearing impairment | Female | Yes | No | First cousin, once removed, of 600974.2.1 |
| 600974.2.4 | Morocco | Male | Yes | No | Unaffected father of 600974.2.1 | |
| 600974.2.5 | Morocco | Female | Yes | No | Unaffected mother of 600974.2.1 |