Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006343.3:c.2323C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613862.2.2 | Morocco | Visual impairment; Rod-cone dystrophy; ; | Male | Yes | Yes | Brother of 613862.2.1 |
613862.2.3 | Morocco | Visual impairment; Rod-cone dystrophy; Nyctalopia; | Female | Yes | Yes | Sister of 613862.2.1 |
613862.2.4 | Morocco | ; | Male | Yes | Father of 613862.2.1 | |
613862.2.6 | Morocco | ; | Male | Yes | Brother of 613862.2.1 | |
613862.2.7 | Morocco | ; | Male | Yes | Brother of 613862.2.1 | |
613862.2.8 | Morocco | ; | Female | Yes | Sister of 613862.2.1 |