1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
3
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
4
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
5
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
6
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
7
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
9
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
10
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
11
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
12
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
13
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
|
|
175 / 7739
|
14
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
15
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
16
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
17
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
18
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
19
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
20
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
21
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
22
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
23
|
(HPO:0002516)
|
Increased intracranial pressure |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
24
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
25
|
(HPO:0001622)
|
Premature birth |
Occasional [Orphanet]
|
|
|
|
100 / 7739
|
26
|
(HPO:0100654)
|
Retrobulbar optic neuritis |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
27
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
28
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
29
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
30
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
31
|
(HPO:0001287)
|
Meningitis |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
32
|
(HPO:0001974)
|
Leukocytosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
33
|
(HPO:0000969)
|
Edema |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
34
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
35
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
36
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
37
|
(OMIM)
|
Stiff skin |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
38
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
39
|
(HPO:0100774)
|
Hyperostosis |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
40
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
41
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
42
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
44
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
45
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|