Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024513.4:c.2505del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610019.1.1 | Saudi Arabia | Developmental cataract | Male | Yes | Yes | Proband |
| 610019.1.3 | Saudi Arabia | Male | Father of 610019.1.1 | |||
| 610019.1.4 | Saudi Arabia | Female | Mother of 610019.1.1 |