|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0002099)
|
Asthma |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0000597)
|
Ophthalmoparesis |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
13
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
|
14
|
(HPO:0002486)
|
Myotonia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
15
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
|
16
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
17
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
20
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
21
|
(HPO:0000366)
|
Abnormality of the nose |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
23
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
24
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
25
|
(OMIM)
|
Apnea, episodic, neonatal |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Laryngospasm, neonatal |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Myotonia, potassium-sensitive (may be responsive to acetazolamide) |
|
|
|
|
4 / 7739
|
|
28
|
(OMIM)
|
Muscle weakness usually does not occur |
|
|
|
|
4 / 7739
|
|
29
|
(OMIM)
|
Cold sensitivity has been reported |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
EMG in myotonia permanens shows continuous myotonic activity |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Serum creatine kinase may be increased |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|