|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
6
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0010299)
|
Abnormality of dentin |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0001863)
|
Toe clinodactyly |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0002645)
|
Wormian bones |
Frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
16
|
(HPO:0001555)
|
Asymmetry of the thorax |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0004990)
|
Epiphyseal streaking |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008115)
|
Clinodactyly of the 3rd toe |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0011918)
|
Clinodactyly of the 4th toe |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Wave-like defects of tibial corticalis (alternating hyperostosis and thinning) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
3rd-4th toe clinodactyly |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Normal collagen type I studies |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|