|
1
|
(HPO:0003707)
|
Calf muscle pseudohypertrophy |
Frequent [IBIS]
|
80% (n=10)
|
11053682
|
IBIS
|
8 / 7739
|
|
2
|
(HPO:0002938)
|
Lumbar hyperlordosis |
Frequent [IBIS]
|
78% (n=9)
|
11053682
|
IBIS
|
73 / 7739
|
|
3
|
(HPO:0002650)
|
Scoliosis |
Frequent [IBIS]
|
33% (n=9)
|
11053682
|
IBIS
|
705 / 7739
|
|
4
|
(HPO:0005162)
|
Left ventricular failure |
Frequent [IBIS]
|
|
24464767
|
IBIS
|
18 / 7739
|
|
5
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
11053682
|
IBIS
|
23 / 7739
|
|
6
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
24464767
|
IBIS
|
25 / 7739
|
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
11053682
|
IBIS
|
281 / 7739
|
|
8
|
(HPO:0100295)
|
Muscle fiber atrophy |
|
|
11053682
|
IBIS
|
22 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
11053682
|
IBIS
|
214 / 7739
|
|
10
|
(HPO:0003307)
|
Hyperlordosis |
|
|
11053682
|
IBIS
|
122 / 7739
|
|
11
|
(HPO:0003391)
|
Gowers sign |
|
|
11053682
|
IBIS
|
37 / 7739
|
|
12
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
11053682
|
IBIS
|
8 / 7739
|
|
13
|
(HPO:0005133)
|
Right ventricular dilatation |
|
|
11053682
|
IBIS
|
14 / 7739
|
|
14
|
(OMIM)
|
Subclinical cardiac involvement in a subset of patients |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
15
|
(OMIM)
|
Abnormal precordial tall R waves on EKG |
|
|
11053682
|
IBIS
|
2 / 7739
|
|
16
|
(OMIM)
|
Progressive proximal muscle involvement |
|
|
10720277
|
IBIS
|
1 / 7739
|
|
17
|
(OMIM)
|
Loss of independent ambulation around age 12 years |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy shows dystrophic pattern |
|
|
11053682
|
IBIS
|
2 / 7739
|
|
19
|
(OMIM)
|
Patchy muscle fiber degeneration |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Absence of gamma-sarcoglycan protein |
|
|
11053682
|
IBIS
|
2 / 7739
|
|
21
|
(OMIM)
|
Normal dystrophin immunostaining |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
22
|
(HPO:0002317)
|
Unsteady gait |
|
|
11053682
|
IBIS
|
45 / 7739
|
|
23
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
11053682
|
IBIS
|
13 / 7739
|
|
24
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
11053682
|
IBIS
|
27 / 7739
|
|
25
|
(HPO:0011675)
|
Arrhythmia |
|
|
11053682
|
IBIS
|
226 / 7739
|
|
26
|
(HPO:0030109)
|
Absent muscle fiber gamma sarcoglycan |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
27
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
9885023
|
IBIS
|
105 / 7739
|
|
28
|
(HPO:0009073)
|
Progressive proximal muscle weakness |
|
|
10720277
|
IBIS
|
8 / 7739
|
|
29
|
(HPO:0003691)
|
Scapular winging |
|
|
10720277
|
IBIS
|
51 / 7739
|
|
30
|
(HPO:0000158)
|
Macroglossia |
|
|
10720277
|
IBIS
|
119 / 7739
|
|
31
|
(HPO:0030102)
|
Reduced muscle fiber alpha sarcoglycan |
|
|
11053682
|
IBIS
|
1 / 7739
|
|
32
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
11053682
|
IBIS
|
14 / 7739
|