|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
10% [HPO:probinson]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000552)
|
Tritanomaly |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000576)
|
Centrocecal scotoma |
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
48/104 [HPO:probinson]
|
|
|
|
23 / 7739
|
|
7
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0000642)
|
Red-green dyschromatopsia |
|
|
|
|
25 / 7739
|
|
9
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
10
|
(HPO:0000650)
|
Abnormal amplitude of pattern reversal visual evoked potentials |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000666)
|
Horizontal nystagmus |
5% [HPO:probinson]
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0001251)
|
Ataxia |
31/104 [HPO:probinson]
|
|
|
|
413 / 7739
|
|
13
|
(HPO:0003587)
|
Insidious onset |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0003701)
|
Proximal muscle weakness |
37/104 [HPO:probinson]
|
|
|
|
105 / 7739
|
|
15
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
16
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|