|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000123)
|
Nephritis |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
8
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0006756)
|
Diffuse leiomyomatosis |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0011501)
|
Anterior lenticonus |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0200020)
|
Corneal erosion |
|
|
|
|
12 / 7739
|
|
16
|
(OMIM)
|
Deafness, sensorineural, especially affecting high frequencies |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
18
|
(OMIM)
|
Pigmentary changes ('flecks') in the perimacular region |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Corneal endothelial vesicles |
|
|
|
|
2 / 7739
|
|
20
|
(MedDRA:10051920)
|
Glomerulonephropathy |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Thinning of the glomerular basement membrane |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
|
|
12 / 7739
|
|
23
|
(OMIM)
|
Splitting of the glomerular basement membrane |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Diffuse lamellation of the glomerular basement membrane |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Hematuria, gross and microscopic |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
27
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
28
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
29
|
(HPO:0030034)
|
Diffuse glomerular basement membrane lamellation |
|
|
|
|
4 / 7739
|