|
1
|
(HPO:0001712)
|
Left ventricular hypertrophy |
Occasional [IBIS]
|
18% (n=22)
|
17994539
|
IBIS
|
76 / 7739
|
|
2
|
(HPO:0011675)
|
Arrhythmia |
Occasional [IBIS]
|
14% (n=22)
|
17994539
|
IBIS
|
226 / 7739
|
|
3
|
(HPO:0008981)
|
Calf muscle hypertrophy |
Rare [IBIS]
|
7.5% (n=40)
|
23243261
|
IBIS
|
28 / 7739
|
|
4
|
(HPO:0003307)
|
Hyperlordosis |
Rare [IBIS]
|
5% (n=40)
|
23243261
|
IBIS
|
122 / 7739
|
|
5
|
(HPO:0003691)
|
Scapular winging |
Rare [IBIS]
|
2.5% (n=40)
|
23243261
|
IBIS
|
51 / 7739
|
|
6
|
(HPO:0003306)
|
Spinal rigidity |
Rare [IBIS]
|
2.5% (n=40)
|
23243261
|
IBIS
|
30 / 7739
|
|
7
|
(HPO:0100515)
|
Pollakisuria |
Rare [IBIS]
|
2.5% (n=40)
|
23243261
|
IBIS
|
12 / 7739
|
|
8
|
(HPO:0002072)
|
Chorea |
Rare [IBIS]
|
2.5% (n=40)
|
23243261
|
IBIS
|
53 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
20092694
|
IBIS
|
214 / 7739
|
|
10
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
24370491
|
IBIS
|
38 / 7739
|
|
11
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
23243261
|
IBIS
|
23 / 7739
|
|
12
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
20092694
|
IBIS
|
11 / 7739
|
|
13
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
15201514
|
IBIS
|
24 / 7739
|
|
14
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
23243261
|
IBIS
|
88 / 7739
|
|
15
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
23243261
|
IBIS
|
105 / 7739
|
|
16
|
(HPO:0009025)
|
Increased connective tissue |
|
|
22057634
|
IBIS
|
11 / 7739
|
|
17
|
(HPO:0009046)
|
Difficulty running |
|
|
23243261
|
IBIS
|
17 / 7739
|
|
18
|
(HPO:0003677)
|
Slow progression |
|
|
15201514
|
IBIS
|
134 / 7739
|
|
19
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
24395438
|
IBIS
|
22 / 7739
|
|
20
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
23243261
|
IBIS
|
61 / 7739
|
|
21
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
23243261
|
IBIS
|
41 / 7739
|
|
22
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
23243261
|
IBIS
|
19 / 7739
|
|
23
|
(HPO:0008948)
|
Proximal upper limb amyotrophy |
|
|
23243261
|
IBIS
|
3 / 7739
|
|
24
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
23243261
|
IBIS
|
17 / 7739
|
|
25
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
17828519
|
IBIS
|
141 / 7739
|
|
26
|
(HPO:0012664)
|
Reduced ejection fraction |
|
|
17828519
|
IBIS
|
32 / 7739
|
|
27
|
(HPO:0003546)
|
Exercise intolerance |
|
|
20092694
|
IBIS
|
62 / 7739
|
|
28
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
20092694
|
IBIS
|
8 / 7739
|