1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
2
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
3
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
24767876
|
IBIS
|
1089 / 7739
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
8931706; 24767876
|
IBIS
|
322 / 7739
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
11453975
|
IBIS
|
413 / 7739
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
10
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
11
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
12
|
(HPO:0001508)
|
Failure to thrive |
|
|
23371835; 24767876
|
IBIS
|
454 / 7739
|
13
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
14
|
(HPO:0001888)
|
Lymphopenia |
|
|
24767876
|
IBIS
|
43 / 7739
|
15
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
|
|
|
|
17 / 7739
|
16
|
(HPO:0001904)
|
Autoimmune neutropenia |
|
|
|
|
5 / 7739
|
17
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
24767876
|
IBIS
|
18 / 7739
|
18
|
(HPO:0002090)
|
Pneumonia |
|
|
8931706; 11453975
|
IBIS
|
59 / 7739
|
19
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
20
|
(HPO:0002665)
|
Lymphoma |
|
|
8931706
|
IBIS
|
60 / 7739
|
21
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
22
|
(HPO:0002732)
|
Lymph node hypoplasia |
|
|
23371835
|
IBIS
|
3 / 7739
|
23
|
(HPO:0002783)
|
Recurrent lower respiratory tract infections |
|
|
|
|
8 / 7739
|
24
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
24767876
|
IBIS
|
31 / 7739
|
25
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
|
|
20 / 7739
|
26
|
(HPO:0005318)
|
Cerebral vasculitis |
|
|
|
|
2 / 7739
|
27
|
(HPO:0005372)
|
Abnormality of B cell physiology |
|
|
|
|
2 / 7739
|
28
|
(HPO:0005390)
|
Recurrent opportunistic infections |
|
|
|
|
4 / 7739
|
29
|
(HPO:0005409)
|
Markedly reduced T cell function |
|
|
|
|
1 / 7739
|
30
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
33
|
(HPO:0003537)
|
Hypouricemia |
|
|
|
|
13 / 7739
|
34
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
23371835
|
IBIS
|
254 / 7739
|
35
|
(HPO:0002014)
|
Diarrhea |
|
|
23371835
|
IBIS
|
225 / 7739
|
36
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
23371835; 11453975
|
IBIS
|
83 / 7739
|
37
|
(HPO:0001945)
|
Fever |
|
|
23371835
|
IBIS
|
218 / 7739
|
38
|
(HPO:0002098)
|
Respiratory distress |
|
|
23371835
|
IBIS
|
75 / 7739
|
39
|
(HPO:0001510)
|
Growth delay |
|
|
23371835
|
IBIS
|
295 / 7739
|
40
|
(HPO:0030813)
|
Absent tonsils |
|
|
23371835
|
IBIS
|
1 / 7739
|
41
|
(HPO:0009098)
|
Chronic oral candidiasis |
|
|
23371835
|
IBIS
|
5 / 7739
|
42
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
23371835
|
IBIS
|
29 / 7739
|
43
|
(HPO:0001263)
|
Global developmental delay |
|
|
23371835
|
IBIS
|
853 / 7739
|
44
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
23371835
|
IBIS
|
158 / 7739
|
45
|
(HPO:0011227)
|
Elevated C-reactive protein level |
|
|
23371835
|
IBIS
|
55 / 7739
|
46
|
(HPO:0012444)
|
Brain atrophy |
|
|
23371835
|
IBIS
|
24 / 7739
|
47
|
(HPO:0000238)
|
Hydrocephalus |
|
|
23371835
|
IBIS
|
278 / 7739
|
48
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
8931706
|
IBIS
|
21 / 7739
|
49
|
(HPO:0100806)
|
Sepsis |
|
|
8931706
|
IBIS
|
48 / 7739
|
50
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
8931706
|
IBIS
|
51 / 7739
|
51
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
11453975
|
IBIS
|
37 / 7739
|
52
|
(MedDRA:10057343)
|
Parvovirus infection |
|
|
11453975
|
IBIS
|
1 / 7739
|
53
|
(HPO:0012410)
|
Pure red cell aplasia |
|
|
11453975
|
IBIS
|
1 / 7739
|
54
|
(HPO:0010862)
|
Delayed fine motor development |
|
|
11453975
|
IBIS
|
3 / 7739
|
55
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
11453975
|
IBIS
|
197 / 7739
|
56
|
(HPO:0040088)
|
Abnormal lymphocyte count |
|
|
11453975
|
IBIS
|
3 / 7739
|
57
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
24767876
|
IBIS
|
61 / 7739
|
58
|
(HPO:0011935)
|
Decreased urinary urate |
|
|
24767876
|
IBIS
|
2 / 7739
|
59
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
24767876
|
IBIS
|
48 / 7739
|
60
|
(HPO:0002110)
|
Bronchiectasis |
|
|
24767876
|
IBIS
|
73 / 7739
|
61
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
24767876
|
IBIS
|
7 / 7739
|
62
|
(HPO:0100021)
|
Cerebral palsy |
|
|
24767876
|
IBIS
|
36 / 7739
|
63
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
24767876
|
IBIS
|
30 / 7739
|
64
|
(HPO:0012191)
|
B-cell lymphoma |
|
|
24767876
|
IBIS
|
5 / 7739
|
65
|
(HPO:0006538)
|
Recurrent bronchopulmonary infections |
|
|
24767876
|
IBIS
|
6 / 7739
|
66
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
24767876
|
IBIS
|
56 / 7739
|
67
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
24767876
|
IBIS
|
77 / 7739
|
68
|
(MedDRA:10058990)
|
Venous occlusion |
|
|
24767876
|
IBIS
|
1 / 7739
|
69
|
(MedDRA:10035742)
|
Pneumonitis |
|
|
24767876
|
IBIS
|
2 / 7739
|