Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001289808.2:c.166C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613763.2.1 | Saudi Arabia | Juvenile cataract | Female | Yes | Yes | Patient had cataract surgery at 11 years of age |
| 613763.2.3 | Saudi Arabia | Juvenile cataract | Male | Yes | Yes | Brother of 613763.2.1. Patient had cataract surgery at 1 year of age |
| 613763.2.4 | Saudi Arabia | Female | Yes | Yes | Sister of 613763.2.1 and twin of 613763.2.2. Asymptomatic but found to have central punctate, linear, or wedge-shaped lens opacities by slit-lamp examination | |
| 613763.2.5 | Saudi Arabia | Female | Mother of 613763.2.1. Asymptomatic but found to have few central punctate or wedge-shaped lens opacities by slit-lamp examination | |||
| 613763.2.6 | Saudi Arabia | Male | Father of 613763.2.1. |