1
|
(HPO:0003701)
|
Proximal muscle weakness |
Very frequent [IBIS]
|
100% (n=32)
|
25862795
|
IBIS
|
105 / 7739
|
2
|
(HPO:0003327)
|
Axial muscle weakness |
Frequent [IBIS]
|
88% (n=32)
|
25862795
|
IBIS
|
10 / 7739
|
3
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
Frequent [IBIS]
|
78% (n=32)
|
25862795
|
IBIS
|
8 / 7739
|
4
|
(HPO:0001771)
|
Achilles tendon contracture |
Frequent [IBIS]
|
69% (n=32)
|
25862795
|
IBIS
|
27 / 7739
|
5
|
(HPO:0003691)
|
Scapular winging |
Frequent [IBIS]
|
59% (n=32)
|
25862795
|
IBIS
|
51 / 7739
|
6
|
(HPO:0002650)
|
Scoliosis |
Frequent [IBIS]
|
59% (n=32)
|
25862795
|
IBIS
|
705 / 7739
|
7
|
(HPO:0030051)
|
Tip-toe gait |
Frequent [IBIS]
|
56% (n=32)
|
25862795
|
IBIS
|
10 / 7739
|
8
|
(HPO:0001288)
|
Gait disturbance |
Frequent [IBIS]
|
34% (n=32)
|
25862795
|
IBIS
|
318 / 7739
|
9
|
(HPO:0003326)
|
Myalgia |
Frequent [IBIS]
|
31% (n=32)
|
25862795
|
IBIS
|
143 / 7739
|
10
|
(HPO:0000158)
|
Macroglossia |
Frequent [IBIS]
|
31% (n=32)
|
25862795
|
IBIS
|
119 / 7739
|
11
|
(HPO:0001962)
|
Palpitations |
Frequent [IBIS]
|
31% (n=32)
|
25862795
|
IBIS
|
62 / 7739
|
12
|
(HPO:0011675)
|
Arrhythmia |
Occasional [IBIS]
|
28% (n=32)
|
25862795
|
IBIS
|
226 / 7739
|
13
|
(HPO:0000939)
|
Osteoporosis |
Occasional [IBIS]
|
22% (n=32)
|
25862795
|
IBIS
|
129 / 7739
|
14
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
19% (n=32)
|
25862795
|
IBIS
|
141 / 7739
|
15
|
(HPO:0000969)
|
Edema |
Occasional [IBIS]
|
19% (n=32)
|
25862795
|
IBIS
|
117 / 7739
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [IBIS]
|
19% (n=32)
|
25862795
|
IBIS
|
410 / 7739
|
17
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Occasional [IBIS]
|
6% (n=32)
|
25862795
|
IBIS
|
137 / 7739
|
18
|
(HPO:0002015)
|
Dysphagia |
Occasional [IBIS]
|
3 % (n=32)
|
25862795
|
IBIS
|
301 / 7739
|
19
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
25862795
|
IBIS
|
214 / 7739
|
20
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
25862795
|
IBIS
|
22 / 7739
|
21
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
25862795
|
IBIS
|
29 / 7739
|
22
|
(HPO:0008988)
|
Pelvic girdle muscle atrophy |
|
|
25862795
|
IBIS
|
5 / 7739
|
23
|
(OMIM)
|
Muscle weakness, proximal, limb-girdle |
|
|
25862795
|
IBIS
|
1 / 7739
|
24
|
(OMIM)
|
Skeletal muscle shows dystrophic changes |
|
|
25862795
|
IBIS
|
1 / 7739
|
25
|
(OMIM)
|
Skeletal muscle shows decreased sarcoglycan proteins |
|
|
25862795
|
IBIS
|
1 / 7739
|
26
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
25862795
|
IBIS
|
122 / 7739
|
27
|
(HPO:0030107)
|
Reduced muscle fiber beta sarcoglycan |
|
|
25862795
|
IBIS
|
1 / 7739
|
28
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
25862795
|
IBIS
|
14 / 7739
|