|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
4
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
13
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
15
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
18
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
19
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
20
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
22
|
(HPO:0004603)
|
Hyperconvex vertebral body endplates |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
24
|
(OMIM)
|
Developmental (progressive) coxa vara |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Single/multiple bone fragments of proximal femoral neck metaphyses |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Corner fractures of long tubular bones metaphyses |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Lucent/sclerotic metaphyseal irregularity |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Bucket-handle fractures |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|