1
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
3
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
4
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
5
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
7
|
(HPO:0001591)
|
Bell-shaped thorax |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
8
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
11
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
13
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
14
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
15
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
16
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
17
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
18
|
(OMIM)
|
Dislocatable radial heads |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Elongated distal fibulas |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Thoracomelic dysplasia |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Pelvic hypoplasia |
|
|
|
|
2 / 7739
|
22
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
23
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
24
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|