Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001042472.3:c.193C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612674.1.1 | Lebanon | Sensorineural hearing impairment; Rod-cone dystrophy; Cataract; Ataxia | Female | Yes | Yes | |
| 612674.1.3 | Lebanon | Male | Yes | Unaffected father of 612674.1.1 | ||
| 612674.1.4 | Lebanon | Female | Yes | Unaffected mother of 612674.1.1 |