|
1
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000613)
|
Photophobia |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
6
|
(HPO:0000662)
|
Nyctalopia |
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0001116)
|
Macular coloboma |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0007843)
|
Attenuation of retinal blood vessels |
|
|
|
|
25 / 7739
|
|
9
|
(OMIM)
|
Severe loss of vision |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Oculodigital reflex (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Pigmentary changes in retina, including mottling and clumping |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Bone spicule pigmentation |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Retinal pigment epithelium atrophy peripherally |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Severe photoreceptor dystrophy involving both rods and cones seen on electroretinography |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|