Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000104.3:c.182G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231300.1.1 | Kuwait | Primary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ; | Male | Yes | Yes | |
| 231300.1.2 | Kuwait | Primary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ; | Female | Yes | Yes | Sister of 231300.1.1 |
| 231300.1.3 | Kuwait | ; | Female | Mother of 231300.1.1 and 231300.1.2 | ||
| 231300.1.4 | Kuwait | ; | Male | Father of 231300.1.1 and 231300.1.2 | ||
| 231300.1.5 | Kuwait | ; | Male | Sibling of 231300.1.1 and 231300.1.2 |