|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
7
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
12
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
15
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
16
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
17
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
18
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
20
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
21
|
(HPO:0003403)
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0003443)
|
Decreased size of nerve terminals |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
27
|
(OMIM)
|
Tongue muscle weakness |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Arthrogryposis multiplex in severe cases |
|
|
|
|
4 / 7739
|
|
29
|
(OMIM)
|
Muscle biopsy shows type 2 fiber atrophy |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Hypotonia, fixed |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Weakness may be exacerbated by illness or stress |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
EMG shows decremental compound muscle action potential (CMAP) response to repetitive nerve stimulation |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Decreased amplitude of miniature endplate potentials (MEPP) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Muscle biopsy shows poor development of the postsynaptic membrane |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Muscle biopsy shows decreased numbers of acetylcholine receptors (AChR) in the postsynaptic membrane (less than 50% of normal) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Muscle biopsy shows preserved junctional folds |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Muscle biopsy shows increased number of endplate regions distributed over increased span of muscle fiber |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Muscle biopsy shows small nerve terminals |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Muscle biopsy shows decreased postsynaptic areas of clefts and folds |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Muscle biopsy shows decreased secondary clefts |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Muscle biopsy may show mild kinetic abnormalities of the AChR |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
45
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
46
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
|
47
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|