|
1
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
6
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
10
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
13
|
(HPO:0002654)
|
Multiple epiphyseal dysplasia |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0006376)
|
Limited elbow flexion |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0008802)
|
Hypoplasia of the femoral head |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
18
|
(OMIM)
|
Double layered patella |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Small humeral, distal radii, and ulnae epiphyses |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Mildly shortened ulna |
|
|
|
|
1 / 7739
|
|
21
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
22
|
(OMIM)
|
Mild shortened metacarpals |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
24
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|