Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.6530_6732del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.4.1 | Syria | Retinal dystrophy; Optic disc pallor; Abnormality of refraction | Male | Yes | Patient 'B1' in the publication |