|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
8
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
10
|
(HPO:0003403)
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
14
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|