1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
5
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
6
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
7
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
8
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
9
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
10
|
(HPO:0001697)
|
Abnormality of the pericardium |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
11
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
13
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
14
|
(HPO:0002617)
|
Aneurysm |
|
|
|
|
34 / 7739
|
15
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
16
|
(HPO:0004420)
|
Arterial thrombosis |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
17
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
18
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
|
|
|
|
70 / 7739
|
19
|
(HPO:0100758)
|
Gangrene |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
20
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
21
|
(HPO:0200047)
|
Chondritis of pinna |
Very frequent [Orphanet]
|
|
|
|
1 / 7739
|
22
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
23
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
24
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
25
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
26
|
(HPO:0012089)
|
Arteritis |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
27
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
28
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
29
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
30
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
31
|
(HPO:0001025)
|
Urticaria |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
32
|
(MedDRA:10025421)
|
Macule |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
33
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
34
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
35
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
36
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
37
|
([DEL]MedDRA:10011224)
|
Cough |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
38
|
(HPO:0100773)
|
Cartilage destruction |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
39
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
40
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
41
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
42
|
(HPO:0002797)
|
Osteolysis |
Frequent [Orphanet]
|
|
|
|
68 / 7739
|
43
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
44
|
(HPO:0100662)
|
Chondritis |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
45
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
46
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
47
|
(HPO:0002960)
|
Autoimmunity |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
48
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
49
|
(HPO:0000360)
|
Tinnitus |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
50
|
(HPO:0002863)
|
Myelodysplasia |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
51
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
52
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
53
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
54
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
55
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
56
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
57
|
(HPO:0002779)
|
Tracheomalacia |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
58
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
59
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
60
|
(HPO:0002616)
|
Aortic root dilatation |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
61
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
62
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|