|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
10
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0003411)
|
Proximal femoral metaphyseal irregularity |
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
14
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
|
15
|
(OMIM)
|
Short stature, disproportionate (short trunk), identifiable in childhood |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Gibbus |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Marked platyspondyly |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
19
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|