Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_145649.5:c.1046A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 116700.1.1 | Saudi Arabia | Developmental cataract | Male | Yes | Yes | Patient had "lensectomy and anterior vitrectomy within the first month of life for complete white cataract". |