|
1
|
(HPO:0001371)
|
Flexion contracture |
|
|
19070492
|
IBIS
|
220 / 7739
|
|
2
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
15832002
|
IBIS
|
141 / 7739
|
|
3
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
15832002
|
IBIS
|
84 / 7739
|
|
4
|
(HPO:0001662)
|
Bradycardia |
|
|
15832002
|
IBIS
|
41 / 7739
|
|
5
|
(HPO:0001692)
|
Primary atrial arrhythmia |
|
|
15832002
|
IBIS
|
16 / 7739
|
|
6
|
(HPO:0002355)
|
Difficulty walking |
|
|
19070492
|
IBIS
|
61 / 7739
|
|
7
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
19070492
|
IBIS
|
214 / 7739
|
|
8
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
10814726
|
IBIS
|
38 / 7739
|
|
9
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
19070492
|
IBIS
|
23 / 7739
|
|
10
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
19070492
|
IBIS
|
88 / 7739
|
|
11
|
(HPO:0003749)
|
Pelvic girdle muscle weakness |
|
|
10814726
|
IBIS
|
15 / 7739
|
|
12
|
(HPO:0005150)
|
Abnormal atrioventricular conduction |
|
|
10814726
|
IBIS
|
16 / 7739
|
|
13
|
(HPO:0008946)
|
Pelvic girdle amyotrophy |
|
|
10814726
|
IBIS
|
2 / 7739
|
|
14
|
(HPO:0003677)
|
Slow progression |
|
|
10814726
|
IBIS
|
134 / 7739
|
|
15
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
19070492
|
IBIS
|
105 / 7739
|
|
16
|
(HPO:0003307)
|
Hyperlordosis |
|
|
19070492
|
IBIS
|
122 / 7739
|
|
17
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
19070492
|
IBIS
|
281 / 7739
|
|
18
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
19070492
|
IBIS
|
28 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
19070492
|
IBIS
|
705 / 7739
|
|
20
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
19070492
|
IBIS
|
56 / 7739
|
|
21
|
(HPO:0006466)
|
Ankle contracture |
|
|
19070492
|
IBIS
|
17 / 7739
|
|
22
|
(HPO:0003116)
|
Abnormal echocardiogram |
|
|
19070492
|
IBIS
|
33 / 7739
|
|
23
|
(HPO:0011704)
|
Sick sinus syndrome |
|
|
19070492
|
IBIS
|
6 / 7739
|
|
24
|
(HPO:0004756)
|
Ventricular tachycardia |
|
|
19070492
|
IBIS
|
55 / 7739
|
|
25
|
(HPO:0030123)
|
Abnormal muscle fiber lamin A/C |
|
|
10814726
|
IBIS
|
1 / 7739
|
|
26
|
(HPO:0001288)
|
Gait disturbance |
|
|
15832002
|
IBIS
|
318 / 7739
|
|
27
|
(HPO:0008956)
|
Proximal lower limb amyotrophy |
|
|
15832002
|
IBIS
|
5 / 7739
|
|
28
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
15832002
|
IBIS
|
22 / 7739
|
|
29
|
(HPO:0001678)
|
Atrioventricular block |
|
|
15832002
|
IBIS
|
59 / 7739
|
|
30
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
15832002
|
IBIS
|
29 / 7739
|
|
31
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
15832002
|
IBIS
|
10 / 7739
|