|
1
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
6
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
14
|
(OMIM)
|
Dysphagia due to muscle weakness |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Finger and wrist extensor weakness |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
EMG shows myotonic changes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Variable fiber size |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Angulated atrophic fibers |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Rimmed vacuoles with basophilic granular material |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Dysphonia due to muscle weakness |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
23
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|