|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0001059)
|
Pterygium |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
9
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
11
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
12
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
17
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|