|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0002872)
|
Apneic episodes precipitated by illness, fatigue, stress |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0002882)
|
Sudden episodic apnea |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0003397)
|
Generalized hypotonia due to defect at the neuromuscular junction |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0003402)
|
Decreased miniature endplate potentials |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0003403)
|
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
|
18
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
|
|
14 / 7739
|
|
19
|
(OMIM)
|
Sudden episodic apnea, severe, may cause death |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Poor feeding due to muscle weakness |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Arthrogryposis multiplex in severe cases |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows type 2 fiber atrophy |
|
|
|
|
6 / 7739
|
|
23
|
(OMIM)
|
Mild-moderate fatigable weakness of limb muscles |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Slow recovery (10-15 minutes) |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Quantal content declines with activity |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Defect in resynthesis and packaging of acetylcholine |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Electron microscopy shows decreased size of synaptic vesicles |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Absence of acetylcholine receptor (AChR) autoantibodies |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|