1
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
2
|
(HPO:0003416)
|
Spinal canal stenosis |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
3
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
4
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
5
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
6
|
(HPO:0002749)
|
Osteomalacia |
|
|
|
|
24 / 7739
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
9
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
10
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0002148)
|
Hypophosphatemia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
13
|
(HPO:0003473)
|
Fatigable weakness |
|
|
|
|
39 / 7739
|
14
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
|
|
14 / 7739
|
15
|
(HPO:0002814)
|
Abnormality of the lower limb |
|
|
|
|
23 / 7739
|
16
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
17
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
19
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
20
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
21
|
(MedDRA:10044016)
|
Tooth abscess |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Pseudofractures (adult-onset) |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Inappropriately normal serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Normocalcemia |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Normal serum parathyroid hormone (PTH) |
|
|
|
|
2 / 7739
|
26
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
28
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
29
|
(HPO:0004912)
|
Hypophosphatemic rickets |
|
|
|
|
13 / 7739
|