|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000541)
|
Retinal detachment |
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
6
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
8
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
12
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
19
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0006134)
|
Enlarged metacarpal epiphyses |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0006370)
|
Distal ulnar epiphyseal stippling |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0010231)
|
Enlarged epiphyses of the phalanges of the hand |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Pubic punctate calcification (stippling) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Upper limb mesomelic shortening |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Megaepiphyses |
|
|
|
|
2 / 7739
|
|
28
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
29
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
30
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|