|
1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
7
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
9
|
(HPO:0001146)
|
Pigmentary retinal degeneration |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0007756)
|
Slitlike anterior chamber angles in children |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008028)
|
Cystoid macular degeneration |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
14
|
(OMIM)
|
Progressive pigmentary retinal degeneration |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Visual field restriction |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Macular atrophy |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Hyperlopia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Progressive synechial angle closure |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Diffuse scleroidal thickening on eye ultrasound |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
ERG shows absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times, progressing to severely diminished or extinguished electroretinograms |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
24
|
(HPO:0007401)
|
Macular atrophy |
|
|
|
|
14 / 7739
|