|
1
|
(HPO:0008981)
|
Calf muscle hypertrophy |
Frequent [IBIS]
|
|
25055047
|
IBIS
|
28 / 7739
|
|
2
|
(HPO:0010628)
|
Facial palsy |
Rare [IBIS]
|
|
25298746
|
IBIS
|
146 / 7739
|
|
3
|
(HPO:0002355)
|
Difficulty walking |
|
|
25724973
|
IBIS
|
61 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
25724973
|
IBIS
|
214 / 7739
|
|
5
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
25724973
|
IBIS
|
23 / 7739
|
|
6
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
23479141
|
IBIS
|
24 / 7739
|
|
7
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
24843229
|
IBIS
|
88 / 7739
|
|
8
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
25298746
|
IBIS
|
22 / 7739
|
|
9
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
25298746
|
IBIS
|
12 / 7739
|
|
10
|
(HPO:0008948)
|
Proximal upper limb amyotrophy |
|
|
25724973
|
IBIS
|
3 / 7739
|
|
11
|
(HPO:0008994)
|
Proximal muscle weakness in lower limbs |
|
|
25724973
|
IBIS
|
11 / 7739
|
|
12
|
(HPO:0008997)
|
Proximal muscle weakness in upper limbs |
|
|
25724973
|
IBIS
|
4 / 7739
|
|
13
|
(HPO:0009025)
|
Increased connective tissue |
|
|
22057634
|
IBIS
|
11 / 7739
|
|
14
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
25055047
|
IBIS
|
45 / 7739
|
|
15
|
(HPO:0009046)
|
Difficulty running |
|
|
25724973
|
IBIS
|
17 / 7739
|
|
16
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
25298746
|
IBIS
|
13 / 7739
|
|
17
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
25724973
|
IBIS
|
73 / 7739
|
|
18
|
(HPO:0003691)
|
Scapular winging |
|
|
25724973
|
IBIS
|
51 / 7739
|
|
19
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
24843229
|
IBIS
|
14 / 7739
|
|
20
|
(HPO:0002378)
|
Hand tremor |
|
|
25298746
|
IBIS
|
9 / 7739
|
|
21
|
(HPO:0100297)
|
Increased endomysial connective tissue |
|
|
25298746
|
IBIS
|
2 / 7739
|
|
22
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
25298746
|
IBIS
|
11 / 7739
|
|
23
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
25298746
|
IBIS
|
22 / 7739
|
|
24
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
25298746
|
IBIS
|
42 / 7739
|
|
25
|
(HPO:0007210)
|
Lower limb amyotrophy |
|
|
25055047
|
IBIS
|
7 / 7739
|
|
26
|
(HPO:0001371)
|
Flexion contracture |
|
|
25724973
|
IBIS
|
220 / 7739
|
|
27
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
15582318
|
IBIS
|
141 / 7739
|
|
28
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
15582318
|
IBIS
|
137 / 7739
|
|
29
|
(HPO:0011712)
|
Right bundle branch block |
|
|
23479141
|
IBIS
|
34 / 7739
|
|
30
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
23479141
|
IBIS
|
8 / 7739
|
|
31
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
23479141
|
IBIS
|
15 / 7739
|