|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000123)
|
Nephritis |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0000132)
|
Menorrhagia |
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
5
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
6
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
7
|
(HPO:0001757)
|
High-frequency sensorineural hearing impairment |
67% [HPO]
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
9
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0008264)
|
Neutrophil inclusion bodies |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
|
15
|
(OMIM)
|
Leukocyte inclusion bodies (Dohle-like bodies) |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Variable bleeding episodes |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Leukocyte inclusion bodies (EM) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Moderate to severe thrombocytopenia (30-90 x 10(9)/l) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal to prolonged bleeding time |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Median mean platelet volume (MPV) 20fl |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal platelet aggregation response to epinephrine, arachidonic acid (AA), adenosine 5'-diphosphate (ADP), collagen, and ristocetin |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|