|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000317)
|
Facial myokymia |
|
|
|
|
5 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
12
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0006944)
|
Abolished vibration sense |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0007328)
|
Impaired pain sensation |
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0011468)
|
Facial tics |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Gastric pain |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Upper limb involvement |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Decreased touch sensation |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Sural nerve biopsy shows loss of myelinated fibers |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
EMG shows sensory involvement |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|