Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000693.4:c.434C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615113.1 | Saudi Arabia | Anophthalmia ; Iris coloboma; Retinal coloboma; Nystagmus | Female | Yes | Yes | Similarly affected sister |
| 615113.2 | Saudi Arabia | Microphthalmia | Yes | Yes | ||
| 615113.4 | Saudi Arabia | Microphthalmia | Yes | Yes | ||
| 615113.5 | Saudi Arabia | Microphthalmia | No | Yes | ||
| 615113.6 | Saudi Arabia | Microphthalmia | Yes | Yes | ||
| 615113.7 | Saudi Arabia | Microphthalmia | No | Yes |