|
1
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
4
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
5
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
6
|
(HPO:0000111)
|
Renal juxtaglomerular cell hypertrophy/hyperplasia |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0000127)
|
Renal salt wasting |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0000128)
|
Renal potassium wasting |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
11
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
13
|
(HPO:0000841)
|
Hyperactive renin-angiotensin system |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0000848)
|
Increased circulating renin level |
|
|
|
|
14 / 7739
|
|
15
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0000934)
|
Chondrocalcinosis |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
18
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
22
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
|
23
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
24
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
25
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
26
|
(HPO:0001563)
|
Fetal polyuria |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
28
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
29
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
30
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
|
31
|
(HPO:0001960)
|
Hypokalemic metabolic alkalosis |
|
|
|
|
5 / 7739
|
|
32
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
33
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
34
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
35
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
36
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
37
|
(HPO:0002632)
|
Low-to-normal blood pressure |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
39
|
(HPO:0002914)
|
Hyperchloriduria |
|
|
|
|
7 / 7739
|
|
40
|
(HPO:0002917)
|
Hypomagnesemia |
Occasional [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
41
|
(HPO:0003081)
|
Increased urinary potassium |
|
|
|
|
7 / 7739
|
|
42
|
(HPO:0003113)
|
Hypochloremia |
|
|
|
|
7 / 7739
|
|
43
|
(HPO:0003158)
|
Hyposthenuria |
|
|
|
|
6 / 7739
|
|
44
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
45
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
46
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
47
|
(HPO:0003527)
|
Hyperprostaglandinuria |
|
|
|
|
3 / 7739
|
|
48
|
(HPO:0003540)
|
Impaired platelet aggregation |
|
|
|
|
17 / 7739
|
|
49
|
(HPO:0003566)
|
Increased serum prostaglandin E2 |
|
|
|
|
4 / 7739
|
|
50
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|