|
1
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0001591)
|
Bell-shaped thorax |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
7
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
8
|
(HPO:0002816)
|
Genu recurvatum |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
10
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
12
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
13
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
14
|
(HPO:0000541)
|
Retinal detachment |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
15
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
18
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0001083)
|
Ectopia lentis |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0001132)
|
Lens subluxation |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
23
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
24
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
25
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
26
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
27
|
(HPO:0005733)
|
Spinal stenosis with reduced interpedicular distance |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0005752)
|
Flattened moderately deformed vertebrae |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
30
|
(HPO:0100719)
|
Lens coloboma |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Thickened long bone diaphyses |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal limb small bones |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Metaphyseal deformation with age |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Irregular epiphyses with delayed growth |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Lip on inner edge of femoral neck |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Narrowed spinal canal with reduced interpedicular distance |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Microspherophakia |
|
|
|
|
7 / 7739
|
|
38
|
(HPO:0000517)
|
Abnormality of the lens |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
39
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
40
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|