1
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
Frequent [IBIS]
|
|
22253010; 25037089
|
IBIS
|
22 / 7739
|
2
|
(HPO:0009113)
|
Diaphragmatic weakness |
Frequent [IBIS]
|
|
22253010; 25037089
|
IBIS
|
12 / 7739
|
3
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
Frequent [IBIS]
|
|
22253010
|
IBIS
|
8 / 7739
|
4
|
(HPO:0003546)
|
Exercise intolerance |
Frequent [IBIS]
|
|
22253010
|
IBIS
|
62 / 7739
|
5
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [IBIS]
|
|
22253010
|
IBIS
|
214 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
Frequent [IBIS]
|
|
22253010
|
IBIS
|
859 / 7739
|
7
|
(HPO:0004356)
|
Abnormality of lysosomal metabolism |
|
|
25037089
|
IBIS
|
6 / 7739
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
25037089
|
IBIS
|
410 / 7739
|
9
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
|
|
25037089
|
IBIS
|
21 / 7739
|
10
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
25037089
|
IBIS
|
76 / 7739
|
11
|
(HPO:0005111)
|
Dilatation of the ascending aorta |
|
|
25037089
|
IBIS
|
3 / 7739
|
12
|
(HPO:0003306)
|
Spinal rigidity |
|
|
22253010; 25037089
|
IBIS
|
30 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
22253010; 25037089
|
IBIS
|
705 / 7739
|
14
|
(HPO:0004325)
|
Decreased body weight |
|
|
22253010; 25037089
|
IBIS
|
492 / 7739
|
15
|
(HPO:0002355)
|
Difficulty walking |
|
|
25037089
|
IBIS
|
61 / 7739
|
16
|
(HPO:0006785)
|
Limb-girdle muscular dystrophy |
|
|
25037089
|
IBIS
|
14 / 7739
|
17
|
(HPO:0002094)
|
Dyspnea |
|
|
25037089
|
IBIS
|
132 / 7739
|
18
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
25037089
|
IBIS
|
8 / 7739
|
19
|
(HPO:0001283)
|
Bulbar palsy |
|
|
25037089
|
IBIS
|
31 / 7739
|
20
|
(HPO:0000020)
|
Urinary incontinence |
|
|
25037089
|
IBIS
|
75 / 7739
|
21
|
(HPO:0000157)
|
Abnormality of the tongue |
|
|
25037089
|
IBIS
|
6 / 7739
|
22
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
25037089
|
IBIS
|
42 / 7739
|
23
|
(HPO:0007687)
|
Unilateral ptosis |
|
|
25037089
|
IBIS
|
4 / 7739
|
24
|
(HPO:0002027)
|
Abdominal pain |
|
|
25037089
|
IBIS
|
184 / 7739
|
25
|
(HPO:0002018)
|
Nausea |
|
|
25037089
|
IBIS
|
44 / 7739
|
26
|
(HPO:0002013)
|
Vomiting |
|
|
25037089
|
IBIS
|
191 / 7739
|
27
|
(HPO:0002014)
|
Diarrhea |
|
|
25037089
|
IBIS
|
225 / 7739
|
28
|
(HPO:0004944)
|
Cerebral aneurysm |
|
|
22253010; 25037089
|
IBIS
|
12 / 7739
|
29
|
(HPO:0003691)
|
Scapular winging |
|
|
25037089
|
IBIS
|
51 / 7739
|
30
|
(HPO:0012548)
|
Fatty replacement of skeletal muscle |
|
|
25037089
|
IBIS
|
8 / 7739
|
31
|
(HPO:0012518)
|
Abnormality of circle of Willis |
|
|
25037089
|
IBIS
|
1 / 7739
|
32
|
(HPO:0002486)
|
Myotonia |
|
|
25037089
|
IBIS
|
29 / 7739
|
33
|
(HPO:0003391)
|
Gowers sign |
|
|
22253010
|
IBIS
|
37 / 7739
|
34
|
(HPO:0002015)
|
Dysphagia |
|
|
23332114
|
IBIS
|
301 / 7739
|
35
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
22253010
|
IBIS
|
81 / 7739
|
36
|
(HPO:0010628)
|
Facial palsy |
|
|
22253010
|
IBIS
|
146 / 7739
|
37
|
(HPO:0000365)
|
Hearing impairment |
|
|
22253010
|
IBIS
|
539 / 7739
|
38
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
22253010
|
IBIS
|
73 / 7739
|
39
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
22253010
|
IBIS
|
309 / 7739
|
40
|
(HPO:0001260)
|
Dysarthria |
|
|
22253010
|
IBIS
|
329 / 7739
|
41
|
(HPO:0001618)
|
Dysphonia |
|
|
22253010
|
IBIS
|
28 / 7739
|
42
|
(HPO:0003394)
|
Muscle cramps |
|
|
22253010
|
IBIS
|
106 / 7739
|
43
|
(HPO:0011675)
|
Arrhythmia |
|
|
22253010
|
IBIS
|
226 / 7739
|
44
|
(HPO:0004942)
|
Aortic aneurysm |
|
|
22253010
|
IBIS
|
10 / 7739
|
45
|
(HPO:0002140)
|
Ischemic stroke |
|
|
22253010
|
IBIS
|
70 / 7739
|
46
|
(HPO:0002597)
|
Abnormality of the vasculature |
|
|
22253010
|
IBIS
|
5 / 7739
|