1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
2
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
3
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
4
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
5
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
6
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
8
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
9
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
10
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
12
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
14
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
|
|
21 / 7739
|
15
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
16
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
17
|
(HPO:0002149)
|
Hyperuricemia |
|
|
|
|
37 / 7739
|
18
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
19
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
20
|
(HPO:0005567)
|
Renal magnesium wasting |
|
|
|
|
5 / 7739
|
21
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
22
|
(HPO:0012405)
|
Hypocitraturia |
|
|
|
|
1 / 7739
|
23
|
(HPO:0012608)
|
Hypermagnesiuria |
|
|
|
|
3 / 7739
|
24
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
25
|
(HPO:0012637)
|
Renal calcium wasting |
|
|
|
|
2 / 7739
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
27
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
28
|
(OMIM)
|
Incomplete distal renal tubular acidosis |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
30
|
(OMIM)
|
Elevated parathyroid hormone |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Abacterial leukocyturia |
|
|
|
|
1 / 7739
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
33
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|