|
1
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
2
|
(HPO:0001879)
|
Abnormality of eosinophils |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0100614)
|
Myositis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
7
|
(HPO:0100537)
|
Fasciitis |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0100748)
|
Muscular edema |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
9
|
(MedDRA:10014954)
|
Eosinophilic fasciitis |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0003549)
|
Abnormality of connective tissue |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
15
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
16
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
18
|
(OMIM)
|
Stiff skin |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0045029)
|
Eosinophilic fasciitis |
|
|
|
|
1 / 7739
|