Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_194248.3:c.5292-2A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601071.6.1 | Yemen | Sensorineural hearing impairment | Female | Yes | Yes | Proband |
| 601071.6.2 | Yemen | Sensorineural hearing impairment | Female | Yes | Yes | Sister of 601071.6.1 |