|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
12
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
13
|
(HPO:0001605)
|
Vocal cord paralysis |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
15
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
17
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
20
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
|
|
9 / 7739
|
|
21
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0009130)
|
Hand muscle atrophy |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
24
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
26
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
|
28
|
(HPO:0012473)
|
Tongue atrophy |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
30
|
(OMIM)
|
Increased susceptibility to respiratory infections |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Muscle weakness, proximal and distal |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Muscle atrophy, proximal and distal |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Shoulder muscle weakness |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hypotonia, truncal and appendicular |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
36
|
(OMIM)
|
Spinal neuropathy |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Lower motor signs |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Upper motor signs |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
40
|
(OMIM)
|
Fibrillations |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Twitching of the fingers and toes |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
43
|
(OMIM)
|
Soft voice due to vocal cord paralysis |
|
|
|
|
1 / 7739
|