|
1
|
(HPO:0001270)
|
Motor delay |
Very frequent [IBIS]
|
90% (n=20)
|
25187493
|
IBIS
|
322 / 7739
|
|
2
|
(HPO:0002515)
|
Waddling gait |
Frequent [IBIS]
|
55% (n=20)
|
25187493
|
IBIS
|
56 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
Frequent [IBIS]
|
45% (n=20)
|
25187493
|
IBIS
|
197 / 7739
|
|
4
|
(HPO:0003551)
|
Difficulty climbing stairs |
Frequent [IBIS]
|
40% (=20)
|
25187493
|
IBIS
|
23 / 7739
|
|
5
|
(HPO:0002527)
|
Falls |
Frequent [IBIS]
|
40% (=20)
|
25187493
|
IBIS
|
10 / 7739
|
|
6
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
Occasional [IBIS]
|
32% (n=103)
|
22560791
|
IBIS
|
56 / 7739
|
|
7
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [IBIS]
|
20% (n=20)
|
25187493
|
IBIS
|
212 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
Occasional [IBIS]
|
|
23465426
|
IBIS
|
1089 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
24711886
|
IBIS
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
24780148
|
IBIS
|
859 / 7739
|
|
11
|
(HPO:0001265)
|
Hyporeflexia |
|
|
24711886
|
IBIS
|
208 / 7739
|
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
24780148
|
IBIS
|
220 / 7739
|
|
13
|
(HPO:0001635)
|
Congestive heart failure |
|
|
23465426
|
IBIS
|
232 / 7739
|
|
14
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
23465426
|
IBIS
|
141 / 7739
|
|
15
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
24780148
|
IBIS
|
410 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
24780148
|
IBIS
|
705 / 7739
|
|
17
|
(HPO:0002791)
|
Hypoventilation |
|
|
26451113
|
IBIS
|
10 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
24780148
|
IBIS
|
214 / 7739
|
|
19
|
(HPO:0003307)
|
Hyperlordosis |
|
|
24711886
|
IBIS
|
122 / 7739
|
|
20
|
(HPO:0003391)
|
Gowers sign |
|
|
11879882
|
IBIS
|
37 / 7739
|
|
21
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
24780148
|
IBIS
|
88 / 7739
|
|
22
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
|
|
24780148
|
IBIS
|
8 / 7739
|
|
23
|
(HPO:0011675)
|
Arrhythmia |
|
|
23465426
|
IBIS
|
226 / 7739
|
|
24
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
24780148
|
IBIS
|
281 / 7739
|
|
25
|
(HPO:0002878)
|
Respiratory failure |
|
|
24780148
|
IBIS
|
57 / 7739
|
|
26
|
(HPO:0002486)
|
Myotonia |
|
|
23465426
|
IBIS
|
29 / 7739
|
|
27
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
23465426
|
IBIS
|
46 / 7739
|
|
28
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
23465426
|
IBIS
|
84 / 7739
|
|
29
|
(HPO:0030097)
|
Absent muscle dystrophin expression |
|
|
12062251
|
IBIS
|
1 / 7739
|
|
30
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
11879882
|
IBIS
|
28 / 7739
|
|
31
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
11879882
|
IBIS
|
8 / 7739
|
|
32
|
(HPO:0009046)
|
Difficulty running |
|
|
11879882
|
IBIS
|
17 / 7739
|
|
33
|
(HPO:0008994)
|
Proximal muscle weakness in lower limbs |
|
|
26451113
|
IBIS
|
11 / 7739
|
|
34
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
26451113
|
IBIS
|
21 / 7739
|
|
35
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
26451113
|
IBIS
|
14 / 7739
|
|
36
|
(HPO:0008956)
|
Proximal lower limb amyotrophy |
|
|
26451113
|
IBIS
|
5 / 7739
|
|
37
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
26451113
|
IBIS
|
122 / 7739
|
|
38
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
26451113
|
IBIS
|
118 / 7739
|
|
39
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
26451113
|
IBIS
|
9 / 7739
|
|
40
|
(HPO:0002913)
|
Myoglobinuria |
|
|
17719224
|
IBIS
|
22 / 7739
|
|
41
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
26451113
|
IBIS
|
22 / 7739
|
|
42
|
(HPO:0000642)
|
Red-green dyschromatopsia |
|
|
17503325
|
IBIS
|
25 / 7739
|