|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
13
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
16
|
(HPO:0003403)
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003436)
|
Prolonged miniature endplate currents |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0003443)
|
Decreased size of nerve terminals |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
20
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
|
21
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
23
|
(OMIM)
|
Slow, delayed pupillary light reflex |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Poor feeding due to muscle weakness |
|
|
|
|
5 / 7739
|
|
25
|
(OMIM)
|
Muscle biopsy shows type 2 fiber atrophy |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Muscle biopsy shows endplate myopathy (see details under NEUROLOGIC heading) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Generalized weakness due to defect at the neuromuscular junction |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Weakness is exacerbated by exertion |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(OMIM)
|
EMG shows decremental compound muscle action potential (CMAP) response to repetitive nerve stimulation |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Multiple CMAP response to single nerve stimulation |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Decreased frequency of MEPP |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Muscle biopsy shows absence of acetylcholinesterase (AChE) from neuromuscular junction |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Muscle biopsy shows decreased size of nerve terminals |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Muscle biopsy shows decreased size of endplates |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Muscle biopsy shows decreased postsynaptic membrane density |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Muscle biopsy shows focal degeneration of postsynaptic junctional folds |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Muscle biopsy shows abnormal encasement of presynaptic membrane by Schwann cells |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|