1
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
2
|
(HPO:0009738)
|
Abnormality of the antihelix |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
4
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
5
|
(HPO:0002999)
|
Patellar dislocation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
6
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
8
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
11
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
12
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
13
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
15
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
16
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
17
|
(HPO:0005988)
|
Congenital muscular torticollis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
18
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
19
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
21
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
22
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
23
|
(HPO:0001572)
|
Macrodontia |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
24
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
25
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
26
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
27
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
28
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
29
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
30
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
31
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
32
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
33
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
34
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
35
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
36
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
37
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
38
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
39
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
40
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
41
|
(HPO:0006045)
|
Short pointed phalanges |
|
|
|
|
1 / 7739
|
42
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
43
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
44
|
(HPO:0008577)
|
Underfolded helix |
|
|
|
|
2 / 7739
|
45
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
46
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
47
|
(HPO:0011088)
|
Dens in dente |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Small lobes |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Short roots |
|
|
|
|
1 / 7739
|
50
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
51
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
52
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
53
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
54
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
55
|
(OMIM)
|
Pointed distal phalanges |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Bifid metatarsal |
|
|
|
|
1 / 7739
|
57
|
(HPO:0000045)
|
Abnormality of the scrotum |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
58
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
59
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
60
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|