|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0002527)
|
Falls |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0007875)
|
Congenital blindness |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
12
|
(OMIM)
|
Poorly reactive pupils |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Attenuated retinal arteries |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Peripheral atrophy of retinal pigment epithelium |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Perimacular retinal surface wrinkling (rare) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Scant bone-spicule pigment (rare) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Visual field restriction |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Loss of central vision |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased or absent electroretinogram (ERG) responses |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|