Symptom Information: Sort according to HPO 

1
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
2
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
3
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
4
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
5
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
6
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
7
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
8
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
9
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
10
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
11
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
12
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
13
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
14
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
16
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
17
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
18
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
19
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
20
 (HPO:0000704) Periodontitis Very frequent [Orphanet] 24 / 7739
21
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
22
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
23
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
24
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
25
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 126 / 7739
26
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
27
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
28
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
29
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
31
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
32
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
33
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 42 / 7739
34
 (HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
35
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
36
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
37
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
38
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
39
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
40
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
41
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
42
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
43
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
44
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
45
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
46
 (HPO:0100760) Clubbing of toes Occasional [Orphanet] 24 / 7739
47
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
48
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
49
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
50
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
51
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
52
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
53
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
54
 (HPO:0002691) Platybasia Frequent [Orphanet] 10 / 7739
55
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
56
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
57
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
58
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
59
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
60
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
61
 (HPO:0000294) Low anterior hairline Occasional [Orphanet] 52 / 7739
62
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
63
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
64
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
65
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
66
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
67
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
68
 (HPO:0003396) Syringomyelia Occasional [Orphanet] 16 / 7739
69
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
70
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
71
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
72
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
73
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
74
 (HPO:0004437) Cranial hyperostosis Occasional [Orphanet] 55 / 7739
75
 (HPO:0009119) Aplasia/Hypoplasia of the frontal sinuses Frequent [Orphanet] 6 / 7739
76
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
77
 (HPO:0001072) Thickened skin Occasional [Orphanet] 87 / 7739
78
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
79
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
80
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
81
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
82
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
83
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
84
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
85
 (HPO:0003621) Juvenile onset 105 / 7739
86
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739