|
1
|
(HPO:0000922)
|
Posterior rib cupping |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
|
|
15121775
|
IBIS
|
150 / 7739
|
|
3
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
6
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
8
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
10
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
14
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
15121775
|
IBIS
|
21 / 7739
|
|
15
|
(HPO:0005054)
|
Metaphyseal spurs |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
17
|
(HPO:0008794)
|
Dysplastic iliac wings |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
21
|
(OMIM)
|
Flat oval-shaped vertebral bodies |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Underossified ischia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0001248)
|
Short tubular bones of the hand |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Wide metaphyses with lateral spurs |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Irregular, small epiphyses |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|