|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
11
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
14
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
15
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
16
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
17
|
(HPO:0000541)
|
Retinal detachment |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
18
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
19
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
20
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
21
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
26
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
27
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
28
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
29
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
31
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
34
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0003320)
|
C1-C2 subluxation |
|
|
|
|
5 / 7739
|
|
36
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
37
|
(HPO:0006406)
|
Club-shaped proximal femur |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0008788)
|
Delayed pubic bone ossification |
|
|
|
|
5 / 7739
|
|
39
|
(HPO:0011860)
|
Metaphyseal dappling |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Dwarfism, short-trunk, short-limbed |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Generalized epiphyseal delay (infancy) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Metaphyseal irregularity and sclerosis (childhood) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Dappled metaphyses (proximal femora, proximal humeri, distal radii, distal ulnae, and proximal and distal tibiae and fibulae) |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Dappling greater in ulna than radius and fibula greater than tibia |
|
|
|
|
1 / 7739
|
|
45
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
46
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
47
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
49
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|