Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_201253.2:c.1772_1775del | 1 | |||
| NM_201253.2:c.2234C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613835.1.2 | Lebanon | Visual impairment ; Exotropia ; Pendular nystagmus ; Cataract ; Attenuation of retinal blood vessels | Female | Yes | No | Paternal aunt of 600105.1.1 |
| 613835.1.3 | Lebanon | Visual impairment | Male | Yes | No | Paternal uncle of 600105.1.1 |
| 613835.1.4 | Lebanon | Visual impairment | Male | Yes | No | Paternal uncle of 600105.1.1 |