|
1
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0002150)
|
Hypercalciuria |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0002148)
|
Hypophosphatemia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
9
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0000886)
|
Deformed rib cage |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0000893)
|
Bulging of the costochondral junction |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
17
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
18
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
19
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0002752)
|
Sparse bone trabeculae |
|
|
|
|
9 / 7739
|
|
21
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
23
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
24
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
25
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0003013)
|
Bulging epiphyses |
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0003020)
|
Enlargement of the wrists |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
29
|
(HPO:0003029)
|
Enlargement of the ankles |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
32
|
(HPO:0003698)
|
Difficulty standing |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
|
34
|
(HPO:0004724)
|
Calcium nephrolithiasis |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0004912)
|
Hypophosphatemic rickets |
|
|
|
|
13 / 7739
|
|
36
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
37
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|
|
38
|
(OMIM)
|
Increased intestinal absorption of phosphate and calcium (normal response to increased serum 1,25-dihydroxyvitamin D3) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
|
40
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
41
|
(HPO:0002814)
|
Abnormality of the lower limb |
|
|
|
|
23 / 7739
|
|
42
|
(OMIM)
|
Curvatures of the femur, tibia, fibula |
|
|
|
|
8 / 7739
|
|
43
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
44
|
(OMIM)
|
Decreased or low-normal serum parathyroid hormone (PTH) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
46
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|