|
1
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
78% (n=9)
|
25125379
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
Frequent [IBIS]
|
56% (n=9)
|
25125379
|
IBIS
|
859 / 7739
|
|
3
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [IBIS]
|
56% (n=9)
|
25125379
|
IBIS
|
212 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [IBIS]
|
50% (n=36)
|
26113120
|
IBIS
|
214 / 7739
|
|
5
|
(HPO:0001685)
|
Myocardial fibrosis |
Frequent [IBIS]
|
44% (n=36)
|
26113120
|
IBIS
|
30 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Frequent [IBIS]
|
33% (n=9)
|
25125379
|
IBIS
|
318 / 7739
|
|
7
|
(HPO:0012664)
|
Reduced ejection fraction |
Occasional [IBIS]
|
14% (n=36)
|
26113120
|
IBIS
|
32 / 7739
|
|
8
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
26022459
|
IBIS
|
61 / 7739
|
|
9
|
(HPO:0003546)
|
Exercise intolerance |
|
|
26022459
|
IBIS
|
62 / 7739
|
|
10
|
(HPO:0003394)
|
Muscle cramps |
|
|
26022459
|
IBIS
|
106 / 7739
|
|
11
|
(HPO:0003326)
|
Myalgia |
|
|
26022459
|
IBIS
|
143 / 7739
|
|
12
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
26022459
|
IBIS
|
141 / 7739
|
|
13
|
(HPO:0003391)
|
Gowers sign |
|
|
26022459
|
IBIS
|
37 / 7739
|
|
14
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
10382696
|
IBIS
|
22 / 7739
|
|
15
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
10382696
|
IBIS
|
21 / 7739
|
|
16
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
10382696
|
IBIS
|
15 / 7739
|
|
17
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
25125379
|
IBIS
|
37 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
25125379
|
IBIS
|
990 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
25125379
|
IBIS
|
853 / 7739
|
|
20
|
(HPO:0002527)
|
Falls |
|
|
25125379
|
IBIS
|
10 / 7739
|
|
21
|
(HPO:0030096)
|
Abnormal muscle fiber dystrophin expression |
|
|
25125379
|
IBIS
|
1 / 7739
|