1
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Very frequent [IBIS]
|
100% (n=9)
|
23746544
|
IBIS
|
214 / 7739
|
2
|
(HPO:0002938)
|
Lumbar hyperlordosis |
Occasional [IBIS]
|
22% (n=9)
|
23746544
|
IBIS
|
73 / 7739
|
3
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
|
26050665
|
IBIS
|
141 / 7739
|
4
|
(HPO:0000767)
|
Pectus excavatum |
|
|
19342235
|
IBIS
|
244 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
17044012
|
IBIS
|
990 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
26050665
|
IBIS
|
859 / 7739
|
7
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
19342235
|
IBIS
|
160 / 7739
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
17044012
|
IBIS
|
322 / 7739
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
23746544
|
IBIS
|
220 / 7739
|
10
|
(HPO:0003307)
|
Hyperlordosis |
|
|
23746544
|
IBIS
|
122 / 7739
|
11
|
(HPO:0003391)
|
Gowers sign |
|
|
23746544
|
IBIS
|
37 / 7739
|
12
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
23746544
|
IBIS
|
88 / 7739
|
13
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
19342235
|
IBIS
|
42 / 7739
|
14
|
(HPO:0100293)
|
Muscle fiber hypertrophy |
|
|
19342235
|
IBIS
|
6 / 7739
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
17044012
|
IBIS
|
482 / 7739
|
16
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
23746544
|
IBIS
|
105 / 7739
|
17
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
23746544
|
IBIS
|
21 / 7739
|
18
|
(HPO:0001649)
|
Tachycardia |
|
|
23746544
|
IBIS
|
53 / 7739
|
19
|
(HPO:0002515)
|
Waddling gait |
|
|
23746544
|
IBIS
|
56 / 7739
|
20
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
23746544
|
IBIS
|
13 / 7739
|
21
|
(HPO:0003306)
|
Spinal rigidity |
|
|
23746544
|
IBIS
|
30 / 7739
|
22
|
(HPO:0003691)
|
Scapular winging |
|
|
23746544
|
IBIS
|
51 / 7739
|
23
|
(HPO:0030046)
|
Hypoglycosylation of alpha-dystroglycan |
|
|
23746544
|
IBIS
|
3 / 7739
|
24
|
(HPO:0030092)
|
Reduced muscle fiber merosin |
|
|
23746544
|
IBIS
|
1 / 7739
|
25
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
23746544
|
IBIS
|
8 / 7739
|
26
|
(HPO:0012665)
|
Moderately reduced ejection fraction |
|
|
23746544
|
IBIS
|
4 / 7739
|
27
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
23746544
|
IBIS
|
14 / 7739
|
28
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
23746544
|
IBIS
|
28 / 7739
|
29
|
(HPO:0001761)
|
Pes cavus |
|
|
20961758
|
IBIS
|
225 / 7739
|