Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000428.3:c.4855C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251750.2.1 | Saudi Arabia | Pendular nystagmus; Lens subluxation; Megalocornea; Glaucoma; Microspherophakia; Iridodonesis | Male | Yes | Yes | Patient from 'family 2' in the publication |
| 251750.2.3 | Saudi Arabia | Male | Father of 251750.2.1 | |||
| 251750.2.4 | Saudi Arabia | Female | Mother of 251750.2.1 |