Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000784.4:c.1263+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 213700.1.1 | Saudi Arabia | Pseudophakia; Reduced visual acuity; Posterior capsular cataract; Diarrhea; Lower limb pain; Personality changes | Female | Yes | Yes | |
| 213700.1.2 | Saudi Arabia | Reduced visual acuity; Posterior capsular cataract; Diarrhea | Female | Yes | Yes | Sister of 213700.1.1 |
| 213700.1.4 | Saudi Arabia | Male | Father of 213700.1.1. "Slit-lamp examination revealed a prominent lens anterior Y-suture with a few adjacent fleck-like opacities". | |||
| 213700.1.5 | Saudi Arabia | Female | Mother of 213700.1.1. "Slit-lamp examination revealed a few fleck-like opacities at or near the lens anterior Y-suture". | |||
| 213700.1.6 | Saudi Arabia | Female | Sister of 213700.1.1. "There were no fleck (or other significant) lens opacities by slit lamp examination". |