Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.1700T>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 220400.5.1 | Saudi Arabia | Sensorineural hearing impairment; Syncope | Female | Yes | No | Proband from 'Family D' in the publication |
| 220400.5.3 | Saudi Arabia | Female | No | No | Mother of 220400.5.1 |