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 |
|---|---|---|---|---|---|---|
| 600105.1.1 | Lebanon | Visual impairment ; Esotropia ; Pendular nystagmus | Male | Yes | No | |
| 600105.1.2 | Lebanon | Visual impairment ; Exotropia ; Pendular nystagmus ; Posterior subcapsular cataract ; Attenuation of retinal blood vessels | Female | Yes | Yes | Mother of 600105.1.1 |
| 600105.1.3 | Lebanon | Visual impairment ; Nystagmus ; Ocular hypertension ; Posterior subcapsular cataract ; cataract ; Attenuation of retinal blood vessels ; Optic atrophy | Female | Yes | Yes | Maternal aunt of 600105.1.1 |