1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
3
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
6
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
7
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
9
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
10
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
11
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
12
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
13
|
(HPO:0001248)
|
Short tubular bones of the hand |
|
|
|
|
4 / 7739
|
14
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
15
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
16
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
17
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
18
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
19
|
(HPO:0003185)
|
Short sacroiliac notch |
|
|
|
|
7 / 7739
|
20
|
(HPO:0003865)
|
Bowed humerus |
|
|
|
|
5 / 7739
|
21
|
(HPO:0006434)
|
Hypoplasia of proximal radius |
|
|
|
|
3 / 7739
|
22
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
23
|
(OMIM)
|
Kyphoscoliosis, progressive |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Distal ulnar shortening |
|
|
|
|
1 / 7739
|
25
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
26
|
(OMIM)
|
Severe metaphyseal changes of long bones |
|
|
|
|
1 / 7739
|
27
|
(MedDRA:10061415)
|
Wrist deformity |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001367)
|
Abnormal joint morphology |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
29
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
31
|
(HPO:0002834)
|
Flared femoral metaphysis |
|
|
|
|
6 / 7739
|
32
|
(HPO:0030292)
|
Tibial metaphyseal irregularity |
|
|
|
|
1 / 7739
|