1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 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:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
7
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
8
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
9
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
10
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
11
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
12
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
14
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
15
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
16
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
17
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
18
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
19
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
20
|
(HPO:0003783)
|
Externally rotated/abducted legs |
|
|
|
|
2 / 7739
|
21
|
(HPO:0004960)
|
Absent pulmonary artery |
|
|
|
|
5 / 7739
|
22
|
(HPO:0005304)
|
Hypoplastic pulmonary veins |
|
|
|
|
1 / 7739
|
23
|
(HPO:0005474)
|
Decreased calvarial ossification |
|
|
|
|
8 / 7739
|
24
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
25
|
(HPO:0006367)
|
Crumpled long bones |
|
|
|
|
2 / 7739
|
26
|
(HPO:0006640)
|
Multiple rib fractures |
|
|
|
|
1 / 7739
|
27
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
28
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
29
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
30
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
31
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
32
|
(OMIM)
|
Normal hearing |
|
|
|
|
9 / 7739
|
33
|
(OMIM)
|
No dentinogenesis imperfecta |
|
|
|
|
4 / 7739
|
34
|
(OMIM)
|
Moderate-severe bone fragility |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Osteopenic long bones |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Undertubulation (lack of diaphyseal modeling) |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Term delivery |
|
|
|
|
1 / 7739
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
39
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|