|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001757)
|
High-frequency sensorineural hearing impairment |
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
10
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
11
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0006524)
|
Tracheobronchial leiomyomatosis |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0006756)
|
Diffuse leiomyomatosis |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0011501)
|
Anterior lenticonus |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Deafness, sensorineural, especially affecting high frequencies |
|
|
|
|
4 / 7739
|
|
17
|
(MedDRA:10006438)
|
Bronchial irritation |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Esophageal leiomyomatosis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Genital leiomyomatosis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hematuria, gross and microscopic |
|
|
|
|
4 / 7739
|
|
21
|
(MedDRA:10051920)
|
Glomerulonephropathy |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Thinning of the glomerular basement membrane |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Splitting of the glomerular basement membrane |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Diffuse lamellation of the glomerular basement membrane |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
26
|
(HPO:0030034)
|
Diffuse glomerular basement membrane lamellation |
|
|
|
|
4 / 7739
|