|
1
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
3
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
4
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0008264)
|
Neutrophil inclusion bodies |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
8
|
(OMIM)
|
No nephritis |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Asymptomatic to mild bleeding episodes (epistaxis, postoperative hemorrhage) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Leukocyte inclusion bodies (Dohle-like bodies) |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Mild to moderate thrombocytopenia (40-120 x 10(9)/l) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Median mean platelet volume (MPV) 18fl |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Mildly prolonged bleeding time 10-12 minutes |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal platelet aggregation response to arachidonic acid (AA), adenosine 5'-diphosphate (ADP), collagen, and ristocetin |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|