Female
Yes
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 | ||
613862.1.4 | Arab | Female | Yes | Mother of 613862.1.1 | ||
613862.1.5 | Arab | Male | Yes | Yes | Brother of 613862.1.1 | |
613862.1.7 | Arab | Male | Yes | Yes | Brother of 613862.1.1 |