Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001553.3:c.830-1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614224.G.1 | Saudi Arabia | Retinal hemorrhage; Retinal arterial macroaneurysms; Abnormal heart valve morphology | Two siblings from an Emirati family | |||
| 614224.G.2 | Saudi Arabia | Retinal arterial macroaneurysms | Yes | Yes | 17 patients (11males; 6 females) from seven families. | |
| 614224.G.3 | Saudi Arabia | Retinal arterial macroaneurysms | Yes | Yes | Five patients (1 male; 4 females) from 'family 004' in the publication. Pseudodominant inheritance is noted in this family. |