|
1
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
2
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
3
|
(HPO:0000989)
|
Pruritus |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
4
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001029)
|
Poikiloderma |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
10
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
11
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
12
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
14
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
15
|
(HPO:0002091)
|
Restrictive ventilatory defect |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0002206)
|
Pulmonary fibrosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
|
20
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
21
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
22
|
(HPO:0003457)
|
EMG abnormality |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
24
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
26
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
27
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
28
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
29
|
(HPO:0003394)
|
Muscle cramps |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
30
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
31
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
32
|
(HPO:0012089)
|
Arteritis |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
33
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
34
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
35
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
36
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
37
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
38
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
39
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
40
|
([DEL]MedDRA:10011224)
|
Cough |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
41
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
42
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|