|
1
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
3
|
(HPO:0000100)
|
Nephrotic syndrome |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0000360)
|
Tinnitus |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
9
|
(HPO:0000613)
|
Photophobia |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
10
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
12
|
(HPO:0000980)
|
Pallor |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
15
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
17
|
(HPO:0003363)
|
Abdominal situs inversus |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0010741)
|
Edema of the lower limbs |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0010784)
|
Uterine neoplasm |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
20
|
(HPO:0100273)
|
Neoplasm of the colon |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0100586)
|
Aseptic leukocyturia |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0100820)
|
Glomerulopathy |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
24
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
25
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
26
|
(HPO:0000517)
|
Abnormality of the lens |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
31
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
32
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0000099)
|
Glomerulonephritis |
|
|
|
|
13 / 7739
|
|
35
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
36
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
37
|
(HPO:0001134)
|
Anterior polar cataract |
|
|
|
|
8 / 7739
|
|
38
|
(HPO:0001142)
|
Lenticonus |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
40
|
(HPO:0002157)
|
Azotemia |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
42
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
43
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
|
|
12 / 7739
|
|
44
|
(HPO:0030034)
|
Diffuse glomerular basement membrane lamellation |
|
|
|
|
4 / 7739
|