|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
12
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
16
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
17
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
19
|
(HPO:0003402)
|
Decreased miniature endplate potentials |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
|
21
|
(OMIM)
|
Poor feeding due to muscle weakness |
|
|
|
|
5 / 7739
|
|
22
|
(OMIM)
|
Arthrogryposis multiplex in severe cases |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Muscle biopsy shows type 2 fiber atrophy |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Hypotonia due to defect at the neuromuscular junction |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
EMG shows decremental compound muscle action potential (CMAP) in response to repetitive nerve stimulation |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Shortened acetylcholine receptor (AChR)-induced ion channel opening |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Muscle biopsy shows decreased numbers of AChR |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Muscle biopsy shows increased numbers of endplate regions |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Muscle biopsy shows increased length of endplate regions |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Muscle biopsy shows preserved nerve terminals |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Muscle biopsy shows preserved junctional structure |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
37
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
38
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|