|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
3
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
|
10
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
13
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0002691)
|
Platybasia |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0003023)
|
Bowing of limbs due to multiple fractures |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
22
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
23
|
(HPO:0005474)
|
Decreased calvarial ossification |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0005758)
|
Basilar impression |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0005897)
|
Severe generalized osteoporosis |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|