|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
1/7 [HPO:probinson]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0002828)
|
Multiple joint contractures |
6/7 [HPO:probinson]
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0003403)
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
5/5 [HPO:probinson]
|
|
|
|
7 / 7739
|
|
6
|
(HPO:0003473)
|
Fatigable weakness |
2/2 [HPO:probinson]
|
|
|
|
39 / 7739
|
|
7
|
(HPO:0030205)
|
Increased jitter at single fibre EMG |
4/4 [HPO:probinson]
|
|
|
|
1 / 7739
|