Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024729.3:c.1126G>T | 1 | NA | ||
| NM_016239.4:c.1454T>C | 2 | NA | ||
| NM_001354604.2:c.1031C>T | 2 | NA | ||
| NM_000260.4:c.5835C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600316.1.1 | Lebanon | Postlingual sensorineural hearing impairment | Female | Yes | Yes | |
| 600316.1.3 | Lebanon | Male | Yes | Yes | Father of the affected siblings | |
| 600316.1.4 | Lebanon | Female | Yes | Yes | Mother of the affected siblings |