|
1
|
(HPO:0000360)
|
Tinnitus |
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
|
3
|
(HPO:0010632)
|
Total anosmia |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
5
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0000603)
|
Central scotoma |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
9
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
11
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0001604)
|
Vocal cord paresis |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
14
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
19
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0003409)
|
Distal sensory impairment of all modalities |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
23
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
24
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
25
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
26
|
(HPO:0007924)
|
Slow decrease in visual acuity |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0008587)
|
Mild neurosensory hearing impairment |
Rare [HPO:probinson]
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Hearing loss, mild (rare) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
30
|
(OMIM)
|
Recovery of visual acuity occurs in 60% of patients |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Cogwheel ocular pursuit |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Scoliosis in severe cases |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
34
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
35
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
|
36
|
(OMIM)
|
Nerve biopsy shows axonal degeneration/regeneration |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|