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 |
|---|---|---|---|---|---|---|
| 611544.8.1 | Saudi Arabia | Pulverulent cataract; Reduced visual acuity; Esotropia | Male | Yes | Yes |