1
|
(HPO:0000162)
|
Glossoptosis |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
2
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
3
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
4
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
5
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
6
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
7
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
8
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
10
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
12
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
13
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
14
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
454 / 7739
|
15
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
16
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
17
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
18
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
19
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
20
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
21
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
22
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
24
|
(HPO:0001373)
|
Joint dislocation |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
25
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
26
|
(HPO:0001519)
|
Disproportionate tall stature |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
27
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
28
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
29
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
30
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
31
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
32
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
33
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
34
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
35
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
36
|
(HPO:0003179)
|
Protrusio acetabuli |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
37
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
38
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
39
|
(HPO:0003416)
|
Spinal canal stenosis |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
40
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
41
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
42
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
43
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
44
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
45
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
46
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
47
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
48
|
(HPO:0010290)
|
Short hard palate |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
49
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
50
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
51
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
52
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
53
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
54
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
55
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
56
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
57
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
58
|
(HPO:0000695)
|
Natal tooth |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
59
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
60
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
61
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
62
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
63
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
64
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
65
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
66
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
67
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
68
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
69
|
(HPO:0000405)
|
Conductive hearing impairment |
occasional [HPO:skoehler]
|
|
|
|
164 / 7739
|
70
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
71
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
72
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
73
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
74
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
75
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|
76
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
77
|
(HPO:0006361)
|
Irregular femoral epiphysis |
|
|
|
|
3 / 7739
|
78
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|