|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000552)
|
Tritanomaly |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0000576)
|
Centrocecal scotoma |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0000642)
|
Red-green dyschromatopsia |
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0000650)
|
Abnormal amplitude of pattern reversal visual evoked potentials |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0001251)
|
Ataxia |
Rare [HPO:probinson]
|
|
|
|
413 / 7739
|
|
14
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
15
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
18
|
(OMIM)
|
Absent or decreased auditory brainstem responses |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Auditory neuropathy |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Pattern visual evoked potentials show reduced amplitude |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Myopathy, mild |
|
|
|
|
1 / 7739
|
|
22
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
24
|
(OMIM)
|
Ataxia may develop in middle age (less common) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Axonal sensorineural polyneuropathy |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
28
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|