|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000123)
|
Nephritis |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001757)
|
High-frequency sensorineural hearing impairment |
100% [HPO:probinson]
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
8
|
(HPO:0001902)
|
Giant platelets |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
|
10
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
100% [HPO:probinson]
|
|
|
|
23 / 7739
|
|
13
|
(OMIM)
|
Deafness, bilateral sensorineural, high frequency (100% of patients) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
15
|
(OMIM)
|
Hypertension, moderate, secondary to renal disease |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hypertension, moderate |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
No leukocyte inclusion bodies on Giemsa staining |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
MYH9-positive inclusions on immunohistochemical staining |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Severe thrombocytopenia (30-60 x 10(9)/L) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal-prolonged bleeding time |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Reduced platelet aggregation response to ADP, collagen, epinephrine |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|