Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000394.4:c.160C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604219.1.1 | Saudi Arabia | Developmental cataract; Microcornea | Female | Yes | Yes | Maternal first cousin had a similar phenotype |
| 604219.1.2 | Saudi Arabia | Developmental cataract; Microcornea | Male | Yes | Yes | Brother of 604219.1.1 |