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 |
|---|---|---|---|---|---|---|
| 613763.1.1 | Saudi Arabia | Developmental cataract; Congenital aphakia; Retinal dystrophy | Female | Yes | Yes | Patient had cataract surgery as an infant and left aphakic resulting in later retinal degeneration |
| 613763.1.3 | Saudi Arabia | Developmental cataract; Congenital aphakia; Retinal detachment | Female | Yes | Yes | Daughter of 6137673.1.1. Patient had cataract surgery at 16 months of age |
| 613763.1.4 | Saudi Arabia | Nuclear cataract; Pseudophakia | Female | Yes | Yes | Daughter of 6137673.1.1. Patient had cataract surgery at 16 months of age |
| 613763.1.5 | Saudi Arabia | Female | Yes | Yes | Daughter of 6137673.1.1. Asymptomatic but slit-lamp examination revealed 'visually insignificant lens (nuclear and cortical) opacities" | |
| 613763.1.6 | Saudi Arabia | Male | Yes | Yes | Son of 6137673.1.1. Asymptomatic but retinoscopy revealed "clinically insignificant fine opacities in the red reflect". | |
| 613763.1.7 | Saudi Arabia | Female | Yes | Mother of 6137673.1.1. Examination revealed "visually insignificant lens opacities and a tessellated fundus with moderate myopia in her left eye" while her "ERG showed mildly depressed rod and cone function". | ||
| 613763.1.8 | Saudi Arabia | Male | Husband (and first-cousin) of 6137673.1.1. |