Symptom Information: Sort according to HPO 

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