1
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
2
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
3
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
4
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
5
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
7
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
8
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
9
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
10
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
11
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
12
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
13
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
14
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
16
|
(HPO:0000670)
|
Carious teeth |
Occasional [Orphanet]
|
|
|
|
145 / 7739
|
17
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
18
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
20
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
21
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
22
|
(OMIM)
|
Thickened sternal ends of ribs |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Thickened medial ends of clavicle |
|
|
|
|
1 / 7739
|
24
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
25
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
26
|
(OMIM)
|
Mild supraorbital hyperplasia |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Marked Erlenmeyer-flask deformity of proximal tibia and distal femur |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Marked undertubulation of long bones |
|
|
|
|
1 / 7739
|
29
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|