|
1
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
4
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0000843)
|
Hyperparathyroidism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
9
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
11
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
13
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
17
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
19
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
20
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
21
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
22
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
24
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
25
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
|
|
18 / 7739
|
|
26
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
27
|
(HPO:0003761)
|
Calcinosis |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0008200)
|
Primary hyperparathyroidism |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
30
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
33
|
(OMIM)
|
Demineralization |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
35
|
(OMIM)
|
Neonatal primary hyperparathyroidism |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Increased urinary cyclic AMP |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Parathyroid chief-cell hyperplasia |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0011037)
|
Decreased urine output |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|