|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
3
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000923)
|
Beaded ribs |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
13
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
17
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0005623)
|
Absent ossification of calvaria |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0006367)
|
Crumpled long bones |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
22
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|