1
|
(HPO:0003126)
|
Low-molecular-weight proteinuria |
Very frequent [IBIS]
|
100% (n=28)
|
19559295
|
IBIS
|
7 / 7739
|
2
|
(HPO:0002150)
|
Hypercalciuria |
Very frequent [IBIS]
|
86% (n=28)
|
19559295
|
IBIS
|
45 / 7739
|
3
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
Very frequent [IBIS]
|
3/3
|
19390221
|
IBIS
|
21 / 7739
|
4
|
(HPO:0003355)
|
Aminoaciduria |
Frequent [IBIS]
|
52% (n=21)
|
19559295
|
IBIS
|
65 / 7739
|
5
|
(HPO:0002748)
|
Rickets |
Frequent [IBIS]
|
3/6
|
19390221
|
IBIS
|
41 / 7739
|
6
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [IBIS]
|
32% (n=25)
|
19559295
|
IBIS
|
232 / 7739
|
7
|
(HPO:0002148)
|
Hypophosphatemia |
Occasional [IBIS]
|
24% (n=25)
|
19559295
|
IBIS
|
43 / 7739
|
8
|
(HPO:0003076)
|
Glycosuria |
Occasional [IBIS]
|
11% (n=28)
|
19559295
|
IBIS
|
32 / 7739
|
9
|
(HPO:0009004)
|
Hypoplasia of the musculature |
occasional [IBIS]
|
1/5
|
24912603
|
IBIS
|
7 / 7739
|
10
|
(HPO:0000518)
|
Cataract |
occasional [IBIS]
|
2/28
|
19559295
|
IBIS
|
454 / 7739
|
11
|
(HPO:0000121)
|
Nephrocalcinosis |
|
39% (n=28)
|
19559295
|
IBIS
|
57 / 7739
|
12
|
(HPO:0002900)
|
Hypokalemia |
|
6% (n=18)
|
19559295
|
IBIS
|
45 / 7739
|
13
|
(HPO:0001947)
|
Renal tubular acidosis |
|
4% (n=27)
|
19559295
|
IBIS
|
21 / 7739
|
14
|
(HPO:0002907)
|
Microscopic hematuria |
|
2/6
|
19390221
|
IBIS
|
27 / 7739
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
1/6
|
19390221
|
IBIS
|
990 / 7739
|
16
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
25852908
|
IBIS
|
18 / 7739
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
20946626
|
IBIS
|
1089 / 7739
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
19559295
|
IBIS
|
853 / 7739
|
19
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
24912603
|
IBIS
|
214 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
|
|
19559295
|
IBIS
|
1232 / 7739
|
21
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
25852908
|
IBIS
|
32 / 7739
|
22
|
(OMIM)
|
Developmental delay, mild |
|
|
19390221; 24912603
|
IBIS
|
8 / 7739
|
23
|
(HPO:0100543)
|
Cognitive impairment |
|
|
19559295
|
IBIS
|
230 / 7739
|
24
|
(OMIM)
|
Increased lactate dehydrogenase |
|
|
24912603
|
IBIS
|
2 / 7739
|
25
|
(MedDRA:10003481)
|
Aspartate aminotransferase increased |
|
|
24912603
|
IBIS
|
4 / 7739
|