Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000329.2:c.271C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 204100.6.1 | Tunisia | Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity | Female | Yes | Yes | |
| 204100.6.2 | Tunisia | Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity | Female | Yes | Yes | Brother of 204100.6.1 |
| 204100.6.3 | Tunisia | Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity | Female | Yes | Yes | Second cousin of 204100.6.1 |
| 204100.6.4 | Tunisia | Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity | Male | Yes | Yes | Second cousin of 204100.6.1; Brother of 204100.6.3 |
| 204100.6.6 | Tunisia | Retinal dystrophy; Progressive visual loss; Congenital stationary night blindness; Congenital nystagmus; Severely reduced visual acuity | Female | Yes | Yes | Second cousin of 204100.6.1; Sister of 204100.6.3 |