Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_174878.3:c.254-649T>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276902.2.2 | Saudi Arabia | Rod-cone dystrophy; Sensorineural hearing impairment | Male | Yes | Yes | Brother of 276902.2.1 |
| 276902.2.3 | Saudi Arabia | Rod-cone dystrophy; Sensorineural hearing impairment | Female | Yes | Yes | Sister of 276902.2.1 |
| 276902.2.4 | Saudi Arabia | Rod-cone dystrophy; Sensorineural hearing impairment | Female | Yes | Yes | Sister of 276902.2.1 |
| 276902.2.5 | Saudi Arabia | Male | Yes | Unaffected father of 276902.2.1 | ||
| 276902.2.6 | Saudi Arabia | Female | Yes | Unaffected mother of 276902.2.1 |