|
1
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
5
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
6
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
10
|
(HPO:0003072)
|
Hypercalcemia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
14
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
15
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
17
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
18
|
(HPO:0003371)
|
Enlargement of the proximal femoral epiphysis |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
21
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0006028)
|
Metaphyseal cupping of metacarpals |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0006208)
|
Metaphyseal cupping of proximal phalanges |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0006414)
|
Distal tibial bowing |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0006431)
|
Proximal femoral metaphyseal abnormality |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0008833)
|
Irregular acetabular roof |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0009844)
|
Broad middle phalanx of finger |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
29
|
(OMIM)
|
Mild to moderate short stature |
|
|
|
|
7 / 7739
|
|
30
|
(OMIM)
|
Adult height 130-160cm |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
No osteoarthritic symptoms |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Mild platyspondyly |
|
|
|
|
14 / 7739
|
|
33
|
(OMIM)
|
Tibial bowing, especially at ankle |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Metaphyseal abnormalities of proximal tibiae and fibulae |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Metaphyseal abnormalities of distal radius and ulna |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Short/broad middle phalanges |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
38
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
39
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
40
|
(HPO:0011849)
|
Abnormal bone ossification |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|