|
1
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
3
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
5
|
(HPO:0000787)
|
Nephrolithiasis |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
11
|
(HPO:0001824)
|
Weight loss |
|
|
|
|
42 / 7739
|
|
12
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
13
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0004428)
|
Elfin facies |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0008250)
|
Infantile hypercalcemia |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(OMIM)
|
Suppression of intact parathyroid hormone levels |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|