Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016239.4:c.6347del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600316.8.2 | Yemen | Sensorineural hearing impairment | Female | Yes | Yes | Sister of 600316.8.1 |