Female
Yes
Yes
| 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 |
|---|---|---|---|---|---|---|
| 600791.2.1 | United Arab Emirates | Severe hearing impairment | Female | Yes | Yes | Proband |
| 600791.2.3 | United Arab Emirates | Severe hearing impairment | Male | Yes | Yes | Sibling of proband |
| 600791.2.4 | United Arab Emirates | Severe hearing impairment | Male | Yes | Yes | Sibling of proband |
| 600791.2.5 | United Arab Emirates | Unknown | Yes | Healthy sibling of proband | ||
| 600791.2.6 | United Arab Emirates | Unknown | Yes | Healthy sibling of proband | ||
| 600791.2.7 | United Arab Emirates | Female | Mother of proband | |||
| 600791.2.8 | United Arab Emirates | Male | Father of proband |