|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002970)
|
Genu varum |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
10
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
12
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
13
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
17
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
20
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0008800)
|
Limited hip movement |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0008843)
|
Hip osteoarthritis |
|
|
|
|
12 / 7739
|
|
24
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
25
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
26
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
28
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
29
|
(OMIM)
|
Mild to moderate short stature |
|
|
|
|
7 / 7739
|
|
30
|
(OMIM)
|
Dwarfism, mild short-limb |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Final adult height 145-170cm |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Mild irregularity of vertebral endplates |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Avascular necrosis of femoral head |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Broad, short femoral neck |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Late ossifying epiphyses |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Irregular, small epiphyses |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|