|
1
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
2
|
(HPO:0010655)
|
Epiphyseal stippling |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
3
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
5
|
(HPO:0001643)
|
Patent ductus arteriosus |
Very frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
6
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
7
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0005716)
|
Lethal skeletal dysplasia |
|
|
|
|
6 / 7739
|
|
10
|
(OMIM)
|
Periosteal cloaking |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Stippling of coccygeal and sacral vertebral region |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Sagittal clefting of upper vertebrae |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Marrow filled with loose fibrous tissue containing numerous large multinucleated osteoclasts associated with Howship lacunae on the endosteal surface |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
15
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
16
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|