Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006996.3:c.581C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249270.4.1 | Saudi Arabia | Diabetes Mellitus; Anemia; Progressive sensorineural hearing impairment; Retinal dystrophy | Unknown | Yes | Yes | Proband |
| 249270.4.2 | Saudi Arabia | Progressive sensorineural hearing impairment; Retinal dystrophy | Unknown | Yes | Yes | Sibling of 249270.4.1 |