1
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
2
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
3
|
(HPO:0000787)
|
Nephrolithiasis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
4
|
(HPO:0000843)
|
Hyperparathyroidism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
6
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
7
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
8
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
9
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
10
|
(HPO:0002148)
|
Hypophosphatemia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
13
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
14
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
15
|
(HPO:0002901)
|
Hypocalcemia |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
16
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
17
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
20
|
(HPO:0006323)
|
Premature loss of primary teeth |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
21
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
22
|
(HPO:0012062)
|
Bone cyst |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
23
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
24
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
25
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
26
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
27
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
28
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
29
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
32
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
33
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
34
|
(HPO:0000867)
|
Secondary hyperparathyroidism |
|
|
|
|
4 / 7739
|
35
|
(HPO:0000886)
|
Deformed rib cage |
|
|
|
|
6 / 7739
|
36
|
(HPO:0000893)
|
Bulging of the costochondral junction |
|
|
|
|
6 / 7739
|
37
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
38
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
39
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
40
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
41
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
42
|
(HPO:0002199)
|
Hypocalcemic seizures |
|
|
|
|
6 / 7739
|
43
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
44
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
45
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
46
|
(HPO:0002752)
|
Sparse bone trabeculae |
|
|
|
|
9 / 7739
|
47
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
48
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
49
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
50
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
51
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
52
|
(HPO:0003013)
|
Bulging epiphyses |
|
|
|
|
9 / 7739
|
53
|
(HPO:0003020)
|
Enlargement of the wrists |
|
|
|
|
9 / 7739
|
54
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
55
|
(HPO:0003029)
|
Enlargement of the ankles |
|
|
|
|
8 / 7739
|
56
|
(HPO:0003106)
|
Subperiosteal erosions due to secondary hyperparathyroidism |
|
|
|
|
4 / 7739
|
57
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
7 / 7739
|
58
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
59
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
60
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
61
|
(HPO:0003698)
|
Difficulty standing |
|
|
|
|
8 / 7739
|
62
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
63
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
64
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
65
|
(HPO:0009023)
|
Abdominal wall muscle weakness |
|
|
|
|
12 / 7739
|
66
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|