|
1
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001399)
|
Hepatic failure |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
8
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0002754)
|
Osteomyelitis |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
12
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
13
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0011001)
|
Increased bone mineral density |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0100730)
|
Bronchogenic cyst |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0001876)
|
Pancytopenia |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
19
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
21
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|