|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
11
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
15
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
20
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0003783)
|
Externally rotated/abducted legs |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0003784)
|
Type 1 collagen overmodification |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0004331)
|
Decreased skull ossification |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
26
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
27
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
28
|
(OMIM)
|
Soft skull |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
White sclerae |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
No dentinogenesis imperfecta |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Short barrel-shaped chest |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
33
|
(OMIM)
|
Severe osteopenia |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Normal bone age |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Bulbous metaphyses |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Long phalanges |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Absent-decreased prolyl 3-hydroxylation at collagen I alpha-1 pro986 |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|