Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000428.3:c.1012del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251750.1.1 | Saudi Arabia | Pendular nystagmus; Lens subluxation; Megalocornea; Glaucoma | Male | Yes | Yes | Patient from 'family 1' in the publication |
| 251750.1.2 | Saudi Arabia | Male | Father of 251750.1.1 | |||
| 251750.1.4 | Saudi Arabia | Lens subluxation; Megalocornea; Glaucoma; Retinal detachment | Male | Yes | Yes | Cousin of 251750.1.1 |
| 251750.1.5 | Saudi Arabia | Male | Father of 251750.1.4 | |||
| 251750.1.6 | Saudi Arabia | Female | Mother of 251750.1.4 |