Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001291867.2:c.2295del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 302350.1.1 | Saudi Arabia | Developmental cataract; Microcornea; Abnormal facial shape; Global developmental delay | Male | Yes | No | Belongs to a large multiplex Saudi family |
| 302350.1.2 | Saudi Arabia | Developmental cataract; Microcornea; Abnormal facial shape | Female | Yes | No | Sister of 302350.1.1 |
| 302350.1.4 | Saudi Arabia | Developmental cataract; Microcornea; Abnormal facial shape | Male | Yes | No | Nephew of 302350.1.1 |
| 302350.1.5 | Saudi Arabia | Developmental cataract; Microcornea; Abnormal facial shape; Glaucoma | Male | Yes | No | Nephew of 302350.1.1 |
| 302350.1.6 | Saudi Arabia | Developmental cataract; Microcornea; Global developmental delay | Male | Yes | No | Nephew of 302350.1.1 |