Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173591.3:c.2773C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614944.1.1 | Syria | Congenital sensorineural hearing impairment | Female | Yes | No | Proband |
| 614944.1.2 | Syria | Congenital sensorineural hearing impairment | Female | Yes | No | Sister of 614944.1.1 |
| 614944.1.3 | Syria | Congenital sensorineural hearing impairment | Female | Yes | No | Sister of 614944.1.1 |
| 614944.1.4 | Syria | Congenital sensorineural hearing impairment | Female | Yes | No | Sister of 614944.1.1 |
| 614944.1.6 | Syria | Male | Yes | No | Unaffected father of 614944.1.1 | |
| 614944.1.7 | Syria | Female | Yes | No | Unaffected mother of 614944.1.1 |