Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006343.3:c.2189+1G>T | 2 | |||
| NM_001042702.5:c.113dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613862.3.1 | Morocco | Progressive visual loss; Cone/cone-rod dystrophy; Nyctalopia; Retinal pigment epithelial mottling; Profound hearing impairment | Male | Yes | Yes | Index patient (identified as II:5 in the paper) |
| 613862.3.2 | Morocco | Progressive visual loss; Cone/cone-rod dystrophy; Nyctalopia; Progressive hearing impairment | Male | Yes | Yes | Brother of 613862.3.1 (II:3 in the paper) |
| 613862.3.3 | Morocco | Progressive visual loss; Cone/cone-rod dystrophy; Nyctalopia; | Male | Yes | Yes | Brother of 613862.3.1 (II:1 in the paper) |
| 613862.3.4 | Morocco | Progressive visual loss; Cone/cone-rod dystrophy; Nyctalopia; Retinal pigment epithelial mottling; | Male | Yes | Yes | Brother of 613862.3.1 (II:4 in the paper) |
| 613862.3.6 | Morocco | Hearing impairment; | Male | Yes | No | Father of 613862.3.1 (I:1 in the paper) |
| 613862.3.7 | Morocco | Mild hearing impairment ; | Female | Yes | No | Mother of 613862.3.1 (I:2 in the paper) |