1
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
2
|
(HPO:0000127)
|
Renal salt wasting |
|
|
|
|
21 / 7739
|
3
|
(HPO:0000128)
|
Renal potassium wasting |
|
|
|
|
6 / 7739
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
6
|
(HPO:0000805)
|
Enuresis |
|
|
|
|
11 / 7739
|
7
|
(HPO:0000848)
|
Increased circulating renin level |
|
|
|
|
14 / 7739
|
8
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
|
|
17 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
14
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
15
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
16
|
(HPO:0001960)
|
Hypokalemic metabolic alkalosis |
|
|
|
|
5 / 7739
|
17
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
18
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
19
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
20
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
21
|
(HPO:0003127)
|
Hypocalciuria |
|
|
|
|
7 / 7739
|
22
|
(HPO:0004322)
|
Short stature |
Occasional [HPO:probinson]
|
|
|
|
1232 / 7739
|
23
|
(HPO:0007182)
|
Peripheral hypomyelination |
Rare [HPO:probinson]
|
|
|
|
7 / 7739
|
24
|
(HPO:0007267)
|
Chronic axonal neuropathy |
Rare [HPO:probinson]
|
|
|
|
5 / 7739
|
25
|
(HPO:0012606)
|
Renal sodium wasting |
|
|
|
|
1 / 7739
|
26
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
27
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
28
|
(OMIM)
|
Some patients do not achieve ability to walk |
|
|
|
|
1 / 7739
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
31
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
32
|
(OMIM)
|
Hypomyelination of sural nerve (rare) |
|
|
|
|
1 / 7739
|
33
|
(HPO:0200114)
|
Metabolic alkalosis |
|
|
|
|
6 / 7739
|
34
|
(OMIM)
|
Increased plasma aldosterone |
|
|
|
|
3 / 7739
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
36
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
37
|
(HPO:0030083)
|
Salt craving |
|
|
|
|
2 / 7739
|