Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001887.4:c.171del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611544.1.1 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity | Male | Yes | Yes | |
| 611544.1.2 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity | Male | Yes | Yes | Cataract surgery done at 8 years of age did not improve visual acuity. Brother of 611544.1.1 |
| 611544.1.4 | Saudi Arabia | Male | Father of 611544.1.1. He was found to have punctate central lenticular opacities within the lens nucleus | |||
| 611544.1.5 | Saudi Arabia | Female | Mother of 611544.1.1. She did not have symptomatic cataract but did not cooperate for careful slit-lamp examination | |||
| 611544.1.6 | Saudi Arabia | Male | Brother of 611544.1.1. He did not have symptomatic cataract but did not cooperate for careful slit-lamp examination |