1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
3
|
(HPO:0010880)
|
Increased nuchal translucency |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
5
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
6
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
7
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
8
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
9
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
13
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
14
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
15
|
(HPO:0001059)
|
Pterygium |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
16
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
17
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
18
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
20
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
21
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
22
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
23
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
24
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
25
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
26
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
27
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
28
|
(HPO:0001060)
|
Axillary pterygia |
|
|
|
|
4 / 7739
|
29
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
30
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
31
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
32
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
33
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
34
|
(HPO:0005025)
|
Hypoplastic distal humeri |
|
|
|
|
3 / 7739
|
35
|
(HPO:0005050)
|
Anterolateral radial head dislocation |
|
|
|
|
1 / 7739
|
36
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
37
|
(HPO:0006376)
|
Limited elbow flexion |
|
|
|
|
2 / 7739
|
38
|
(HPO:0006389)
|
Limited knee flexion |
|
|
|
|
2 / 7739
|
39
|
(HPO:0008800)
|
Limited hip movement |
|
|
|
|
3 / 7739
|
40
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
41
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
42
|
(HPO:0009756)
|
Popliteal pterygium |
|
|
|
|
9 / 7739
|
43
|
(HPO:0012107)
|
Increased fibular diameter |
|
|
|
|
1 / 7739
|
44
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
45
|
(OMIM)
|
Thin vermilion |
|
|
|
|
3 / 7739
|
46
|
(OMIM)
|
Limited hip motion |
|
|
|
|
1 / 7739
|
47
|
(HPO:0005060)
|
Limited elbow flexion/extension |
|
|
|
|
3 / 7739
|
48
|
(HPO:0005085)
|
Limited knee flexion/extension |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Radioulnar diastasis |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Hypoplastic everted lateral condyle |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Proximal club shaped femurs |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Short, thick tibiae |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Short, thick fibulae |
|
|
|
|
1 / 7739
|
54
|
(HPO:0001048)
|
Cavernous hemangioma |
|
|
|
|
28 / 7739
|
55
|
(OMIM)
|
Small pterygia (axillary, popliteal) |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
57
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
58
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
61
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
62
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
63
|
(HPO:0003066)
|
Limited knee extension |
|
|
|
|
4 / 7739
|