Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153700.2:c.4510del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603720.1.1 | United Arab Emirates | Profound sensorineural hearing impairment | Male | Yes | ||
| 603720.1.2 | United Arab Emirates | Male | Father of 603720.1.1 |