Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000428.3:c.4313G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251750.3.1 | Saudi Arabia | Lens subluxation; Megalocornea; Glaucoma | Male | Yes | Yes | Patient from 'family 3' in the publication |
| 251750.3.3 | Saudi Arabia | Glaucoma; Phthisis bulbi; Pectus excavatum | Male | Yes | Yes | Father of 251750.3.1 |
| 251750.3.4 | Saudi Arabia | Female | Mother of 251750.3.1 | |||
| 251750.3.5 | Saudi Arabia | Megalocornea; Glaucoma; Iridodonesis; Uveal ectropion; Ectopia lentis; Abnormality of the optic nerve | Female | Yes | Yes | Paternal aunt of 251750.3.1 |