|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
3
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0000127)
|
Renal salt wasting |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
14
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
15
|
(HPO:0001563)
|
Fetal polyuria |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
17
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
|
18
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
19
|
(HPO:0002902)
|
Hyponatremia |
|
|
|
|
37 / 7739
|
|
20
|
(HPO:0002914)
|
Hyperchloriduria |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0003081)
|
Increased urinary potassium |
|
|
|
|
7 / 7739
|
|
22
|
(HPO:0003113)
|
Hypochloremia |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
24
|
(HPO:0004737)
|
Global glomerulosclerosis |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0004909)
|
Hypokalemic hypochloremic metabolic alkalosis |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0005565)
|
Reduced renal corticomedullary differentiation |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
|
28
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
|
|
21 / 7739
|
|
29
|
(HPO:0012605)
|
Hypernatriuria |
|
|
|
|
6 / 7739
|