|
1
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0001287)
|
Meningitis |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
13
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
14
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
19
|
(HPO:0002383)
|
Encephalitis |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
23
|
(HPO:0002902)
|
Hyponatremia |
|
|
|
|
37 / 7739
|
|
24
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
25
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
26
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
|
|
27 / 7739
|
|
27
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
|
|
32 / 7739
|
|
28
|
(HPO:0003573)
|
Increased total bilirubin |
|
|
|
|
10 / 7739
|
|
29
|
(HPO:0007430)
|
Generalized edema |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0008151)
|
Prolonged prothrombin time |
|
|
|
|
13 / 7739
|
|
31
|
(HPO:0011900)
|
Hypofibrinogenemia |
|
|
|
|
8 / 7739
|
|
32
|
(MedDRA:10016945)
|
Fontanelle bulging |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0000979)
|
Purpura |
|
|
|
|
27 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Overproduction by T lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Activated HLA DR+ T cells in peripheral blood |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Reduced Natural Killer cell cytotoxicity |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Reduced T cell cytotoxicity |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Hemophagocytosis in bone marrow, lymph nodes, spleen, liver, and central nervous system |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Non-malignant mixed lymphohistiocytic infiltration of the reticuloendothelial system |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Increased VLDL |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Increased LDL |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Decreased HDL |
|
|
|
|
2 / 7739
|
|
45
|
(MedDRA:10001551)
|
Alanine aminotransferase increased |
|
|
|
|
4 / 7739
|
|
46
|
(OMIM)
|
CSF pleocytosis, particularly of lymphocytes |
|
|
|
|
2 / 7739
|