|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
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2538 / 7739
|
|
2
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
4
|
(HPO:0000867)
|
Secondary hyperparathyroidism |
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0000886)
|
Deformed rib cage |
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0000893)
|
Bulging of the costochondral junction |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0000920)
|
Enlargement of the costochondral junction |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
12
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
13
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
14
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0002199)
|
Hypocalcemic seizures |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
17
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 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:0002909)
|
Generalized aminoaciduria |
|
|
|
|
13 / 7739
|
|
24
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0003013)
|
Bulging epiphyses |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0003020)
|
Enlargement of the wrists |
|
|
|
|
9 / 7739
|
|
29
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0003029)
|
Enlargement of the ankles |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0003106)
|
Subperiosteal erosions due to secondary hyperparathyroidism |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
33
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
34
|
(HPO:0003698)
|
Difficulty standing |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
|
36
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
37
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
38
|
(HPO:0009023)
|
Abdominal wall muscle weakness |
|
|
|
|
12 / 7739
|
|
39
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|