Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024513.3:c.449T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610019.2.1 | Saudi Arabia | Developmental cataract; Posterior capsular cataract | Female | No | Yes | |
| 610019.2.3 | Saudi Arabia | Female | Mother of 610019.2.1 |