|
1
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
2
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
3
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
4
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
5
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
6
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
9
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0100559)
|
Lower limb asymmetry |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
16
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
20
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|