|
1
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
12
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
15
|
(HPO:0004594)
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
17
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
18
|
(HPO:0008843)
|
Hip osteoarthritis |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
22
|
(OMIM)
|
Final adult height 131-156 cm |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0001379)
|
Degenerative joint disease |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
25
|
(OMIM)
|
Mild scoliosis |
|
|
|
|
7 / 7739
|
|
26
|
(OMIM)
|
Narrow disc space |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Mild epiphyseal irregularities |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|