|
1
|
(HPO:0000325)
|
Triangular face |
Frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
Occasional [Orphanet]
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0001059)
|
Pterygium |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
11
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
13
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
14
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
17
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
18
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
19
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
20
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
22
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
23
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
24
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0008422)
|
Vertebral wedging |
|
|
|
|
7 / 7739
|