Symptom Information: Sort according to HPO 

1
 (HPO:0000158) Macroglossia Occasional [Orphanet] 119 / 7739
2
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
3
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
4
 (HPO:0001792) Small nail 55 / 7739
5
 (HPO:0000998) Hypertrichosis 52 / 7739
6
 (HPO:0001007) Hirsutism 91 / 7739
7
 (HPO:0000169) Gingival fibromatosis 14 / 7739
8
 (HPO:0000212) Gingival overgrowth 43 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
12
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
13
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
15
 (HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
16
 (HPO:0000221) Furrowed tongue Occasional [Orphanet] 24 / 7739
17
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
18
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
19
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
20
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
21
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
22
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
23
 (HPO:0001857) Short distal phalanx of toe 6 / 7739
24
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
25
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
26
 (HPO:0010516) Thymus hyperplasia Occasional [Orphanet] 4 / 7739
27
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
28
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
29
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
30
 (HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
31
 (HPO:0000218) High palate 356 / 7739
32
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
33
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
34
 (HPO:0000518) Cataract 454 / 7739
35
 (HPO:0000545) Myopia 286 / 7739
36
 (HPO:0000574) Thick eyebrow 96 / 7739
37
 (HPO:0000664) Synophrys 112 / 7739
38
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
39
 (HPO:0000787) Nephrolithiasis rare [HPO:skoehler] 78 / 7739
40
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
41
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
42
 (HPO:0001252) Muscular hypotonia 990 / 7739
43
 (HPO:0001324) Muscle weakness 859 / 7739
44
 (HPO:0001507) Growth abnormality 36 / 7739
45
 (HPO:0001537) Umbilical hernia 206 / 7739
46
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
47
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
48
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
49
 (HPO:0002616) Aortic root dilatation 27 / 7739
50
 (HPO:0003298) Spina bifida occulta 67 / 7739
51
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
52
 (HPO:0005113) Dilatation of the aortic arch 12 / 7739
53
 (HPO:0006887) Intellectual disability, progressive rare [HPO] 68 / 7739
54
 (HPO:0010864) Intellectual disability, severe rare [HPO:skoehler] 120 / 7739
55
 (OMIM) Birthweight greater than 90th percentile 1 / 7739
56
 (OMIM) Prominent mandible 5 / 7739
57
 (OMIM) Long, lobulated ears 1 / 7739
58
 (OMIM) Fleshy nose 1 / 7739
59
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
60
 (HPO:0005242) Extrahepatic biliary duct atresia 9 / 7739
61
 (OMIM) Dry, thick skin 1 / 7739
62
 (OMIM) Poor muscle bulk 1 / 7739
63
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
64
 (HPO:0010547) Muscle flaccidity 466 / 7739
65
 (OMIM) Mental retardation, severe in some patients 1 / 7739
66
 (OMIM) Diabetes, nonautoimmune (rare) 1 / 7739
67
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
68
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
69
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
70
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
71
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
72
 (HPO:0000436) Abnormality of the nasal tip Frequent [Orphanet] 18 / 7739
73
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
74
 (HPO:0000179) Thick lower lip vermilion 72 / 7739