|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001025)
|
Urticaria |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0002716)
|
Lymphadenopathy |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0008940)
|
Generalized lymphadenopathy |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
9
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
11
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
12
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
14
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
15
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
17
|
(HPO:0002014)
|
Diarrhea |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
18
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
19
|
(HPO:0010783)
|
Erythema |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
20
|
(HPO:0012089)
|
Arteritis |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0001063)
|
Acrocyanosis |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
23
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
24
|
(HPO:0100592)
|
Peritoneal abscess |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
26
|
(HPO:0000510)
|
Rod-cone dystrophy |
rare [HPO:skoehler]
|
|
|
|
266 / 7739
|
|
27
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
28
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
29
|
(HPO:0000988)
|
Skin rash |
|
|
|
|
98 / 7739
|
|
30
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|
|
31
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
32
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
33
|
(HPO:0001974)
|
Leukocytosis |
|
|
|
|
33 / 7739
|
|
34
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
35
|
(HPO:0003261)
|
Increased IgA level |
|
|
|
|
12 / 7739
|
|
36
|
(OMIM)
|
Visual field loss |
|
|
|
|
3 / 7739
|
|
37
|
(OMIM)
|
Attenuated retinal vessels |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
Peripheral atrophy of retinal pigment epithelium |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Intraretinal pigmentation |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Decreased or undetectable rod responses on electroretinography |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Reduced cone responses on electroretinography |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Leukocytosis (mean leukocyte count 18.7 x 10(9)/L) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0011897)
|
Neutrophillia |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Elevated polyclonal IgD (equal to or greater than 100 IU/ml) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Mildly elevated urinary mevalonic acid |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
47
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
48
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
49
|
(OMIM)
|
Stiff skin |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
50
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
51
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|