|
1
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000848)
|
Increased circulating renin level |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0002900)
|
Hypokalemia |
rare [HPO:skoehler]
|
|
|
|
45 / 7739
|
|
9
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
|
|
23 / 7739
|
|
14
|
(MedDRA:10023891)
|
Laryngospasm |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0003088)
|
Premature osteoarthritis |
|
|
|
|
10 / 7739
|
|
16
|
(OMIM)
|
Increased bone mineral density of lumbar spine (rare) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hypocalcemia, mild or severe |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Parathyroid hormone concentration low or low-normal |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal or mildly elevated serum phosphate |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hyperaldosteronemia (rare) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|