1
|
(HPO:0000544)
|
External ophthalmoplegia |
Very frequent [IBIS]
|
|
23352259
|
IBIS
|
40 / 7739
|
2
|
(HPO:0000508)
|
Ptosis |
Frequent [IBIS]
|
|
23352259
|
IBIS
|
459 / 7739
|
3
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
23352259
|
IBIS
|
71 / 7739
|
4
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
23352259
|
IBIS
|
56 / 7739
|
5
|
(HPO:0001288)
|
Gait disturbance |
|
|
23352259
|
IBIS
|
318 / 7739
|
6
|
(HPO:0001533)
|
Slender build |
|
|
23352259
|
IBIS
|
11 / 7739
|
7
|
(HPO:0002870)
|
Obstructive sleep apnea |
|
|
23352259
|
IBIS
|
16 / 7739
|
8
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
23352259
|
IBIS
|
29 / 7739
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
23352259
|
IBIS
|
214 / 7739
|
10
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
23352259
|
IBIS
|
22 / 7739
|
11
|
(HPO:0003326)
|
Myalgia |
|
|
23352259
|
IBIS
|
143 / 7739
|
12
|
(HPO:0003391)
|
Gowers sign |
|
|
23352259
|
IBIS
|
37 / 7739
|
13
|
(HPO:0003394)
|
Muscle cramps |
|
|
23352259
|
IBIS
|
106 / 7739
|
14
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
23352259
|
IBIS
|
281 / 7739
|
15
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
23352259
|
IBIS
|
39 / 7739
|
16
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
23352259
|
IBIS
|
22 / 7739
|
17
|
(HPO:0010628)
|
Facial palsy |
|
|
23352259
|
IBIS
|
146 / 7739
|
18
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
23352259
|
IBIS
|
18 / 7739
|
19
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
23352259
|
IBIS
|
37 / 7739
|
20
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
23352259
|
IBIS
|
61 / 7739
|
21
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
23352259
|
IBIS
|
73 / 7739
|
22
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
23352259
|
IBIS
|
31 / 7739
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23352259
|
IBIS
|
990 / 7739
|
24
|
(HPO:0000716)
|
Depression |
|
|
23352259
|
IBIS
|
99 / 7739
|
25
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
23352259
|
IBIS
|
25 / 7739
|
26
|
(HPO:0000651)
|
Diplopia |
|
|
23352259
|
IBIS
|
37 / 7739
|
27
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
23352259
|
IBIS
|
20 / 7739
|
28
|
(HPO:0003689)
|
Multiple mitochondrial DNA deletions |
|
|
23352259
|
IBIS
|
12 / 7739
|