Unknown
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000260.4:c.3591_3592del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276900.7 | Saudi Arabia | Hearing impairment; Retinal vascular proliferation; Glaucoma; Nyctalopia | Female | Yes | Patient from 'family 2' in the publication. Patient has an affected cousin. | |
| 276900.8 | Saudi Arabia | Nyctalopia; Hearing impairment; Visual impairment | Male | Patient from 'family 3' in the publication |