Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000441.2:c.1150G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600791.3 | United Arab Emirates | Congenital sensorineural hearing impairment | Unknown | Subject with compound heterozygous mutation | ||
| 600791.5 | United Arab Emirates | Sensorineural hearing impairment | Female | Yes | Yes | Patient from 'family 2' in the publication. Patient has affected cousins. |