Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| MERTK, 9-KB DEL | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613862.1.1 | Arab | Visual impairment; Rod-cone dystrophy; Optic disc pallor; Attenuation of retinal blood vessels; Macular atrophy; | Male | Yes | Yes | Proband |
| 613862.1.2 | Arab | Visual impairment; Rod-cone dystrophy; Dyschromatopsia; Best corrected visual acuity 0.3 LogMAR | Male | Yes | Yes | Brother of 613862.1.1 |
| 613862.1.3 | Arab | Male | Yes | Father of 613862.1.1 | ||
| 613862.1.5 | Arab | Male | Yes | Yes | Brother of 613862.1.1 | |
| 613862.1.6 | Arab | Female | Yes | Yes | Sister of 613862.1.1 | |
| 613862.1.7 | Arab | Male | Yes | Yes | Brother of 613862.1.1 |