|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
8
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0001602)
|
Laryngeal stenosis |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
13
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0002949)
|
Fused cervical vertebrae |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
19
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
21
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
23
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0004592)
|
Thoracic platyspondyly |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
26
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
27
|
(HPO:0006406)
|
Club-shaped proximal femur |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0006408)
|
Distal tapering femur |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0006495)
|
Aplasia/Hypoplasia of the ulna |
|
|
|
|
7 / 7739
|
|
30
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
31
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
32
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
33
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
34
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
35
|
(OMIM)
|
Edematous eyelids |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Narrow thoracic cage |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Abnormal segmentation |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Sagittal cleft |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Short humeri with proximal clubbing and distal tapering |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Short bowed radii |
|
|
|
|
5 / 7739
|
|
41
|
(OMIM)
|
Short femora with proximal clubbing and distal tapering |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Bowed, short tibiae |
|
|
|
|
4 / 7739
|
|
43
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
44
|
(OMIM)
|
Poor ossifications of metacarpal and proximal, middle phalanges |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Well-ossified distal phalanges |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
48
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
49
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|
|
50
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
|
51
|
(HPO:0030330)
|
Multinucleated giant chondrocytes in epiphyseal cartilage |
|
|
|
|
1 / 7739
|