Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000260.4:c.5637-7_5742+8del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276900.5 | United Arab Emirates | Retinal dystrophy | Unknown | No | ||
| 276900.7 | United Arab Emirates | Hearing impairment; Retinal vascular proliferation; Glaucoma; Nyctalopia | Female | Yes | Patient from 'family 2' in the publication. Patient has an affected cousin. |