|
1
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
|
2
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
10
|
(OMIM)
|
No kidney disease |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
No leukocyte inclusions on Giemsa staining |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
MYH9-positive inclusions on immunohistochemical staining |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Variable bleeding episodes |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Asymptomatic (easy bruisability, postoperative hemorrhage) |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Thrombocytopenia (33-120 x 10(9)/L) |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Normal to prolonged bleeding time |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|