|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0001152)
|
Saccadic smooth pursuit |
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
12
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
15
|
(HPO:0002346)
|
Head tremor |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
19
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
21
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0006879)
|
Pontocerebellar atrophy |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0006886)
|
Impaired distal vibration sensation |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0006937)
|
Impaired distal tactile sensation |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0007240)
|
Progressive gait ataxia |
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0010702)
|
Increased antibody level in blood |
|
|
|
|
29 / 7739
|
|
27
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
28
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
29
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
30
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
31
|
(OMIM)
|
Limb ataxia, progressive |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10057660)
|
Spinocerebellar ataxia |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Dystonic hand posturing (44% of patients) |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
35
|
(OMIM)
|
Decreased distal proprioception (74% of patients) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Absence of sensory action potentials |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Sural nerve biopsy shows chronic axonal neuropathy |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Sural nerve biopsy showed loss of large myelinated fibers |
|
|
|
|
3 / 7739
|