|
1
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
8
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
9
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
11
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0004611)
|
Anterior concavity of thoracic vertebrae |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0005731)
|
Cortical irregularity |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
16
|
(OMIM)
|
Generalized bone dysplasia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Shortened bowed long bones |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Ribbon-like ribs |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Tall vertebrae |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Abnormal sternum |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Pelvic contracture |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Basal skull sclerosis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Mastoid sclerosis |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
25
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
27
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
28
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
29
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
30
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
31
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
|
33
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
34
|
(HPO:0000916)
|
Broad clavicles |
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
36
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
37
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
38
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
39
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
40
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
41
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
42
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
43
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
44
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
45
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
46
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
47
|
(HPO:0040016)
|
Prominent coccyx |
|
|
|
|
1 / 7739
|