|
1
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
4
|
(HPO:0008507)
|
Static ophthalmoparesis |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Ocular myopathy |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
No oropharyngeal weakness |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
No response to neostigmine or edrophonium |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Normal tetanic stimulation of ulnar nerve |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Curare sensitivity |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
12
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|