1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
2
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
4
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
7
|
(HPO:0001234)
|
Hitchhiker thumb |
|
|
|
|
5 / 7739
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
9
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
10
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
12
|
(HPO:0002947)
|
Cervical kyphosis |
|
|
|
|
6 / 7739
|
13
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
14
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
15
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
16
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
17
|
(HPO:0003440)
|
Horizontal sacrum |
|
|
|
|
5 / 7739
|
18
|
(HPO:0004632)
|
Cervical segmentation defect |
|
|
|
|
2 / 7739
|
19
|
(HPO:0004976)
|
Knee dislocation |
|
|
|
|
6 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
21
|
(HPO:0006060)
|
Tombstone-shaped proximal phalanges |
|
|
|
|
1 / 7739
|
22
|
(HPO:0006200)
|
Widened distal phalanges |
|
|
|
|
1 / 7739
|
23
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
24
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
25
|
(OMIM)
|
Rounded iliac bones with shortened sacrosciatic notches |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Vertical, block-like ischia |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
28
|
(OMIM)
|
Club-shaped humeri with early proximal epiphyseal ossification |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Club-shaped femora |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Bifid digits |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Hitchhiker halluces |
|
|
|
|
1 / 7739
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|