|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
10
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
|
12
|
(HPO:0001601)
|
Laryngomalacia |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
13
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
14
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
18
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
19
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
23
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
24
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
|
25
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
26
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
27
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
28
|
(HPO:0001222)
|
Spatulate thumbs |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
30
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
31
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
32
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
33
|
(HPO:0001724)
|
Aortic dilatation |
|
|
|
|
24 / 7739
|
|
34
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
35
|
(HPO:0001772)
|
Talipes equinovalgus |
|
|
|
|
7 / 7739
|
|
36
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0002176)
|
Spinal cord compression |
|
|
|
|
15 / 7739
|
|
38
|
(HPO:0002777)
|
Tracheal stenosis |
|
|
|
|
35 / 7739
|
|
39
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
40
|
(HPO:0002780)
|
Bronchomalacia |
|
|
|
|
7 / 7739
|
|
41
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
42
|
(HPO:0002947)
|
Cervical kyphosis |
|
|
|
|
6 / 7739
|
|
43
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
44
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
45
|
(HPO:0003304)
|
Spondylolysis |
|
|
|
|
11 / 7739
|
|
46
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
47
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
48
|
(HPO:0004232)
|
Accessory carpal bones |
|
|
|
|
2 / 7739
|
|
49
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
50
|
(HPO:0004976)
|
Knee dislocation |
|
|
|
|
6 / 7739
|
|
51
|
(HPO:0006067)
|
Multiple carpal ossification centers |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
53
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
54
|
(HPO:0008127)
|
Bipartite calcaneus |
|
|
|
|
4 / 7739
|
|
55
|
(HPO:0008434)
|
Hypoplastic cervical vertebrae |
|
|
|
|
4 / 7739
|
|
56
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
57
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
58
|
(OMIM)
|
Malformations of the auditory ossicles |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Anterior corneal lens opacities |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Flattened frontal bone |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Small skull base |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Subluxation or fusion of the cervical vertebrae |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Dislocation of the hip |
|
|
|
|
2 / 7739
|
|
64
|
(OMIM)
|
Dysplastic epiphyseal centers |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Cylindric fingers |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Supernumerary tarsal bones |
|
|
|
|
1 / 7739
|
|
67
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
68
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
69
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
70
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
71
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
72
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
73
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|