Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000441.2:c.716T>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600791.6.1 | United Arab Emirates | Sensorineural hearing impairment | Male | Yes | Yes | Patient from 'family 3' in the publication |