|
1
|
(HPO:0000787)
|
Nephrolithiasis |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
5
|
(HPO:0001655)
|
Patent foramen ovale |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0002092)
|
Pulmonary hypertension |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0002510)
|
Spastic tetraplegia |
rare [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
9
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
10
|
(HPO:0003351)
|
Decreased circulating renin level |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0100021)
|
Cerebral palsy |
|
|
|
|
36 / 7739
|
|
12
|
(HPO:0100704)
|
Cortical visual impairment |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0200114)
|
Metabolic alkalosis |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0200128)
|
Biventricular hypertrophy |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
|
|
76 / 7739
|
|
16
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
17
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
18
|
(OMIM)
|
Second-degree heart block (in one patient) |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10049781)
|
Hypertension neonatal |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0002384)
|
Focal seizures with impairment of consciousness or awareness |
|
|
|
|
17 / 7739
|
|
22
|
(OMIM)
|
Athetosis, mild (in one patient) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0100022)
|
Abnormality of movement |
|
|
|
|
129 / 7739
|
|
24
|
(OMIM)
|
Verbal outbursts (in one patient) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Elevated aldosterone |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
High aldosterone/renin ratio |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|