Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001080477.4:c.6006_6009del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615145.1.1 | Egypt | Microcornea; Optic disc coloboma; Chorioretinal coloboma | Female | No | Yes | |
| 615145.1.2 | Egypt | Male | Father of 615145.1.1 |