1
|
(HPO:0000233)
|
Thin vermilion border |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
3
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
7
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
8
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
12
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
18
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
19
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
20
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
21
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
22
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
23
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
24
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
25
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
26
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
27
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
28
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
29
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
30
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
31
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
32
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
33
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
34
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
35
|
(HPO:0005692)
|
Joint hyperflexibility |
|
|
|
|
20 / 7739
|
36
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
37
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
38
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
39
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
40
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
41
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
42
|
(HPO:0005285)
|
Absent nasal bridge |
|
|
|
|
2 / 7739
|
43
|
(HPO:0008127)
|
Bipartite calcaneus |
|
|
|
|
4 / 7739
|
44
|
(HPO:0009279)
|
Radial deviation of the 4th finger |
|
|
|
|
2 / 7739
|
45
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
46
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
47
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
48
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
49
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
50
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
51
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
52
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
53
|
(OMIM)
|
Cylindrical fingers |
|
|
|
|
1 / 7739
|
54
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
55
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
56
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
57
|
(OMIM)
|
Abnormal karyotype in 3 patients involving distal 6p |
|
|
|
|
1 / 7739
|
58
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
59
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
61
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
62
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|