|
1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0001974)
|
Leukocytosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0100614)
|
Myositis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0100838)
|
Recurrent cutaneous abscess formation |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
9
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
11
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
12
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
13
|
(OMIM)
|
Stiff skin |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
15
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|