Female
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 |
|---|---|---|---|---|---|---|
| 611544.6.2 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity | Female | Yes | Yes | Sister of 611544.6.1. She had a "Dull red reflex from ametropia but excellent with refractive correction". |
| 611544.6.3 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity; Esotropia | Female | Yes | Yes | Sister of 611544.6.1. |
| 611544.6.4 | Saudi Arabia | Male | Father of 611544.6.1. Subject had occasional central dot lenticular opacities within the lens nucleus. | |||
| 611544.6.5 | Saudi Arabia | Female | Mother of 611544.6.1. Subject had occasional central dot lenticular opacities within the lens nucleus. |