|
1
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0001974)
|
Leukocytosis |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
7
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
8
|
(OMIM)
|
Mucosal bleeding |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0011002)
|
Osteopetrosis |
Occasional [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
12
|
(OMIM)
|
Defective platelet adhesion with normal platelet count |
|
|
|
|
1 / 7739
|
|
13
|
(MedDRA:10017533)
|
Fungal infection |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Defective neutrophil adhesion to endothelial cells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Delayed wound healing |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|