Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001080477.4:c.2083dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615145.2.1 | Saudi Arabia | Visual impairment; Microcornea; Microphthalmia; Iris coloboma; Macular coloboma | Male | Yes | Yes | 'Patient 1' in the publication |
| 615145.2.2 | Saudi Arabia | Visual impairment; Microcornea; Microphthalmia; Iris coloboma | Female | Yes | Yes | Sister of 615145.2.1 |
| 615145.2.4 | Saudi Arabia | Female | Mother of 615145.2.1 |