Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004431.5:c.1405T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 116600.1.1 | Saudi Arabia | Developmental cataract; Remnants of the hyaloid vascular system | Male | Yes | Yes | Patient had three older sisters who were affected but were not available for examination or testing. |
| 116600.1.2 | Saudi Arabia | Developmental cataract; Remnants of the hyaloid vascular system | Male | Yes | Yes | Brother of 116600.1.1 |
| 116600.1.4 | Saudi Arabia | Female | Mother of 116600.1.1. She had few small punctate lens opacities |