|
1
|
(HPO:0000613)
|
Photophobia |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Occasional [Orphanet]
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
6
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
Common [HPO:probinson]
|
|
|
|
555 / 7739
|
|
9
|
(HPO:0007939)
|
Blue cone monochromacy |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Occasional [HPO:probinson]
|
|
|
|
20 / 7739
|
|
11
|
(OMIM)
|
Colorblindness, blue cone monochromacy type |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0012043)
|
Pendular nystagmus |
|
|
|
|
11 / 7739
|
|
13
|
(OMIM)
|
Macular retinal pigment epithelial changes (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
15
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|