|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000092)
|
Tubular atrophy |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
6
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0003126)
|
Low-molecular-weight proteinuria |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(OMIM)
|
A subset of patients develop renal insufficiency with decreased creatinine clearance |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Renal biopsy shows focal tubular atrophy (in 33%) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
16
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|