Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000104.3:c.182G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231300.1 | Saudi Arabia | Primary congenital glaucoma; Abnormal intraocular pressure; | Unknown | Yes | Bad prognosis | |
| 231300.1.1 | Saudi Arabia | Primary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ; | Male | Yes | Yes | |
| 231300.1.2 | Saudi Arabia | Primary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ; | Female | Yes | Yes | Sister of 231300.1.1 |
| 231300.1.3 | Saudi Arabia | ; | Female | Mother of 231300.1.1 and 231300.1.2 | ||
| 231300.1.5 | Saudi Arabia | ; | Male | Sibling of 231300.1.1 and 231300.1.2 |