Symptom Information: Sort according to HPO 

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