|
1
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
6
|
(HPO:0100686)
|
Enthesitis |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0002749)
|
Osteomalacia |
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0002148)
|
Hypophosphatemia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
15
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
16
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
18
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
19
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
20
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
23
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
24
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0004912)
|
Hypophosphatemic rickets |
|
|
|
|
13 / 7739
|
|
27
|
(HPO:0006285)
|
Hypomineralization of enamel |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0006432)
|
Trapezoidal distal femoral condyles |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008117)
|
Shortening of the talar neck |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008144)
|
Flattening of the talar dome |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|
|
32
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
33
|
(OMIM)
|
Hearing loss has been reported in some adults with severe disease |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Defect in dentin maturation |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Enlarged pulp chamber |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Recurrent dental abscesses |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Rickets in children |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Osteomalacia in adults |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Osteoarthritis, more common in adults |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Calcification of entheses (tendons, ligaments, joint capsules), more common in adults |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Increased anteroposterior skull length |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Flaring of the iliac wings |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0002814)
|
Abnormality of the lower limb |
|
|
|
|
23 / 7739
|
|
44
|
(OMIM)
|
Curvatures of the femur, tibia, fibula |
|
|
|
|
8 / 7739
|
|
45
|
(OMIM)
|
Pseudofractures in adults |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Normal to mildly increased serum parathyroid hormone (PTH) |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
48
|
(OMIM)
|
Inappropriately normal to low-normal serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (609506) to hypophosphatemia |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
51
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
52
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
53
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
54
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|