1
|
(HPO:0000787)
|
Nephrolithiasis |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=76)
|
25964309
|
IBIS
|
78 / 7739
|
2
|
(HPO:0003131)
|
Cystinuria |
Very frequent [IBIS]
|
100% (n=442)
|
25717071
|
IBIS
|
6 / 7739
|
3
|
(HPO:0003355)
|
Aminoaciduria |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
24246330
|
IBIS
|
65 / 7739
|
4
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
24246330
|
IBIS
|
45 / 7739
|
5
|
(HPO:0003268)
|
Argininuria |
Very frequent [IBIS]
|
|
24246330
|
IBIS
|
5 / 7739
|
6
|
(HPO:0003297)
|
Hyperlysinuria |
Very frequent [IBIS]
|
|
24246330
|
IBIS
|
10 / 7739
|
7
|
(HPO:0003532)
|
Ornithinuria |
Very frequent [IBIS]
|
|
24246330
|
IBIS
|
5 / 7739
|
8
|
(HPO:0012622)
|
Chronic kidney disease |
Frequent [IBIS]
|
70% (n=76)
|
25964309
|
IBIS
|
32 / 7739
|
9
|
(HPO:0011848)
|
Abdominal colic |
Frequent [IBIS]
|
61% (n=442)
|
25717071
|
IBIS
|
8 / 7739
|
10
|
(HPO:0000790)
|
Hematuria |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
22854136
|
IBIS
|
106 / 7739
|
11
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Frequent [IBIS]
|
|
26929440
|
IBIS
|
56 / 7739
|
12
|
(HPO:0000822)
|
Hypertension |
Occasional [IBIS]
|
29% (n=442)
|
25717071
|
IBIS
|
224 / 7739
|
13
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [IBIS]
|
26% (n=23)
|
22854136
|
IBIS
|
134 / 7739
|
14
|
(HPO:0001945)
|
Fever |
Occasional [IBIS]
|
22% (n=23)
|
22854136
|
IBIS
|
218 / 7739
|
15
|
(HPO:0001081)
|
Cholelithiasis |
Rare [IBIS]
|
2% (n=442)
|
25717071
|
IBIS
|
36 / 7739
|
16
|
(HPO:0002149)
|
Hyperuricemia |
Frequent [Orphanet]
|
|
22854136
|
IBIS
|
37 / 7739
|
17
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
15602663
|
IBIS
|
232 / 7739
|
18
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
26929440
|
IBIS
|
23 / 7739
|
19
|
(HPO:0001251)
|
Ataxia |
|
|
26929440
|
IBIS
|
413 / 7739
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
26929440
|
IBIS
|
1089 / 7739
|
21
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
26929440
|
IBIS
|
116 / 7739
|
22
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
26929440
|
IBIS
|
76 / 7739
|
23
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
26929440
|
IBIS
|
171 / 7739
|
24
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
26929440
|
IBIS
|
197 / 7739
|
25
|
(HPO:0002354)
|
Memory impairment |
|
|
26929440
|
IBIS
|
63 / 7739
|
26
|
(HPO:0002070)
|
Limb ataxia |
|
|
1681667
|
IBIS
|
41 / 7739
|
27
|
(HPO:0001260)
|
Dysarthria |
|
|
1681667
|
IBIS
|
329 / 7739
|
28
|
(HPO:0002027)
|
Abdominal pain |
|
|
24246330
|
IBIS
|
184 / 7739
|
29
|
(HPO:0003168)
|
Dibasicaminoaciduria |
|
|
24246330
|
IBIS
|
5 / 7739
|
30
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
26929440
|
IBIS
|
990 / 7739
|
31
|
(HPO:0002078)
|
Truncal ataxia |
|
|
26929440
|
IBIS
|
41 / 7739
|
32
|
(HPO:0001350)
|
Slurred speech |
|
|
26929440
|
IBIS
|
16 / 7739
|