Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001453.3:c.379C>T | 1 | |||
| NM_001937.5:c.446A>G | 1 | |||
| NM_172390.3:c.704G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601631.1.2 | Lebanon | Primary congenital glaucoma; Aniridia | Male | Yes | Yes | Sibling of 601631.1.1 |
| 601631.1.3 | Lebanon | Primary congenital glaucoma; Aniridia; Congestive heart failure; ventricular septal defect; | Female | Yes | Yes | Sibling of 601631.1.1 |
| 601631.1.4 | Lebanon | ; | Male | Father of 601631.1.1 | ||
| 601631.1.5 | Lebanon | ; | Female | Mother of 601631.1.1 |