Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198056.2:c.2164A>G | 1 | |||
| NM_000258.3:c.311T>C | 1 | |||
| NM_006204.4:c.2351G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600163.1.2 | Lebanon | Male | Consanguineous partner. Has 2 kids who died of heart failure. One of them also had achromatopsia |