|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
7
|
(HPO:0002665)
|
Lymphoma |
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
10
|
(HPO:0002960)
|
Autoimmunity |
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0011107)
|
Recurrent aphthous stomatitis |
|
|
|
|
13 / 7739
|