|
1
|
(HPO:0003701)
|
Proximal muscle weakness |
Very frequent [IBIS]
|
|
16344347
|
IBIS
|
105 / 7739
|
|
2
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
Very frequent [IBIS]
|
|
16344347
|
IBIS
|
15 / 7739
|
|
3
|
(HPO:0002792)
|
Reduced vital capacity |
Frequent [IBIS]
|
75% (n=12)
|
16344347
|
IBIS
|
17 / 7739
|
|
4
|
(HPO:0012664)
|
Reduced ejection fraction |
Frequent [IBIS]
|
60% (n=23)
|
18639457
|
IBIS
|
32 / 7739
|
|
5
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
42% (n=38)
|
24587344
|
IBIS
|
192 / 7739
|
|
6
|
(HPO:0008994)
|
Proximal muscle weakness in lower limbs |
Frequent [IBIS]
|
35% (n=20)
|
16344347
|
IBIS
|
11 / 7739
|
|
7
|
(HPO:0030099)
|
Reduced muscle fiber alpha dystroglycan |
Frequent [IBIS]
|
|
16344347
|
IBIS
|
2 / 7739
|
|
8
|
(HPO:0003551)
|
Difficulty climbing stairs |
Occasional [IBIS]
|
28% (n=38)
|
24587344
|
IBIS
|
23 / 7739
|
|
9
|
(HPO:0002460)
|
Distal muscle weakness |
Occasional [IBIS]
|
25% (n=20)
|
16344347
|
IBIS
|
122 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [IBIS]
|
24% (n=38)
|
15505776
|
IBIS
|
232 / 7739
|
|
11
|
(HPO:0009046)
|
Difficulty running |
Occasional [IBIS]
|
21% (n=38)
|
24587344
|
IBIS
|
17 / 7739
|
|
12
|
(HPO:0000158)
|
Macroglossia |
Occasional [IBIS]
|
15% (n=20)
|
16344347
|
IBIS
|
119 / 7739
|
|
13
|
(HPO:0003691)
|
Scapular winging |
Occasional [IBIS]
|
15% (n=20)
|
16344347
|
IBIS
|
51 / 7739
|
|
14
|
(HPO:0003326)
|
Myalgia |
Occasional [IBIS]
|
10% (n=20)
|
16344347
|
IBIS
|
143 / 7739
|
|
15
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
16344347
|
IBIS
|
141 / 7739
|
|
16
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
12666124
|
IBIS
|
27 / 7739
|
|
17
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
16344347
|
IBIS
|
25 / 7739
|
|
18
|
(HPO:0002355)
|
Difficulty walking |
|
|
16344347
|
IBIS
|
61 / 7739
|
|
19
|
(HPO:0002359)
|
Frequent falls |
|
|
24587344
|
IBIS
|
24 / 7739
|
|
20
|
(HPO:0002515)
|
Waddling gait |
|
|
16344347
|
IBIS
|
56 / 7739
|
|
21
|
(HPO:0002650)
|
Scoliosis |
|
|
16344347
|
IBIS
|
705 / 7739
|
|
22
|
(HPO:0002808)
|
Kyphosis |
|
|
14523375
|
IBIS
|
289 / 7739
|
|
23
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
15505776
|
IBIS
|
9 / 7739
|
|
24
|
(HPO:0002948)
|
Vertebral fusion |
|
|
14523375
|
IBIS
|
28 / 7739
|
|
25
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
16344347
|
IBIS
|
214 / 7739
|
|
26
|
(HPO:0003307)
|
Hyperlordosis |
|
|
16344347
|
IBIS
|
122 / 7739
|
|
27
|
(HPO:0003394)
|
Muscle cramps |
|
|
24587344
|
IBIS
|
106 / 7739
|
|
28
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
16344347
|
IBIS
|
21 / 7739
|
|
29
|
(HPO:0003733)
|
Thigh hypertrophy |
|
|
24587344
|
IBIS
|
2 / 7739
|
|
30
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
16344347
|
IBIS
|
22 / 7739
|
|
31
|
(HPO:0005162)
|
Left ventricular failure |
|
|
15505776
|
IBIS
|
18 / 7739
|
|
32
|
(HPO:0008305)
|
Exercise-induced myoglobinuria |
25% [HPO:probinson]
|
|
22029705
|
IBIS
|
7 / 7739
|
|
33
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
16344347
|
IBIS
|
28 / 7739
|
|
34
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
16344347
|
IBIS
|
88 / 7739
|
|
35
|
(HPO:0003828)
|
Variable expressivity |
|
|
16344347
|
IBIS
|
130 / 7739
|
|
36
|
(HPO:0040083)
|
Toe walking |
|
|
24587344
|
IBIS
|
15 / 7739
|
|
37
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
16344347
|
IBIS
|
42 / 7739
|
|
38
|
(HPO:0003115)
|
Abnormal EKG |
|
|
15505776
|
IBIS
|
44 / 7739
|
|
39
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
24587344
|
IBIS
|
8 / 7739
|