Symptom Information: Sort according to HPO 

1
 (HPO:0002684) Thickened calvaria 32 / 7739
2
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 55 / 7739
3
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
6
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
7
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
8
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
9
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
10
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
11
 (HPO:0003712) Skeletal muscle hypertrophy Very frequent [Orphanet] 42 / 7739
12
 (HPO:0003720) Generalized muscle hypertrophy 8 / 7739
13
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
14
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
15
 (HPO:0000028) Cryptorchidism 347 / 7739
16
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
17
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
18
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
19
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
20
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
21
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
22
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
23
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
24
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
25
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
28
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
29
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
30
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
31
 (HPO:0009381) Short finger 45 / 7739
32
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
33
 (HPO:0001249) Intellectual disability 1089 / 7739
34
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
35
 (HPO:0000202) Oral cleft rare [HPO:skoehler] 120 / 7739
36
 (HPO:0000252) Microcephaly 832 / 7739
37
 (HPO:0000316) Hypertelorism 644 / 7739
38
 (HPO:0000369) Low-set ears 372 / 7739
39
 (HPO:0000426) Prominent nasal bridge 121 / 7739
40
 (HPO:0000470) Short neck 345 / 7739
41
 (HPO:0000486) Strabismus 576 / 7739
42
 (HPO:0000490) Deeply set eye 131 / 7739
43
 (HPO:0000528) Anophthalmia 42 / 7739
44
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
45
 (HPO:0011478) True anophthalmia 17 / 7739
46
 (HPO:0000574) Thick eyebrow 96 / 7739
47
 (HPO:0000717) Autism 108 / 7739
48
 (HPO:0000885) Broad ribs 21 / 7739
49
 (HPO:0001250) Seizures 1245 / 7739
50
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
51
 (HPO:0001376) Limitation of joint mobility 27 / 7739
52
 (HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
53
 (HPO:0001608) Abnormality of the voice 126 / 7739
54
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
55
 (HPO:0001650) Aortic valve stenosis 49 / 7739
56
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
57
 (HPO:0001680) Coarctation of aorta 57 / 7739
58
 (HPO:0001698) Pericardial effusion 20 / 7739
59
 (HPO:0001831) Short toe 52 / 7739
60
 (HPO:0001845) Overlapping toe 18 / 7739
61
 (HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
62
 (HPO:0002213) Fine hair 77 / 7739
63
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
64
 (HPO:0002948) Vertebral fusion 28 / 7739
65
 (HPO:0003026) Short long bone 51 / 7739
66
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
67
 (HPO:0004621) Enlarged vertebral pedicles 2 / 7739
68
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
69
 (HPO:0004894) Laryngotracheal stenosis 2 / 7739
70
 (HPO:0008070) Sparse hair 94 / 7739
71
 (HPO:0008551) Microtia 98 / 7739
72
 (HPO:0009466) Radial deviation of finger 101 / 7739
73
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
74
 (HPO:0012385) Camptodactyly 113 / 7739
75
 (OMIM) Incomplete jaw opening 1 / 7739
76
 (OMIM) Anomalous middle ear bones 1 / 7739
77
 (OMIM) Deafness, early-onset mixed conductive and sensorineural 1 / 7739
78
 (OMIM) Broad mid-nose 1 / 7739
79
 (OMIM) Narrow alar root 1 / 7739
80
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
81
 (OMIM) Pericardial fibrosis, requiring pericardiectomy 1 / 7739
82
 (OMIM) Laryngotracheal stenosis, recurrent 1 / 7739
83
 (HPO:0000140) Abnormality of the menstrual cycle 7 / 7739
84
 (OMIM) Large, flattened vertebrae with large pedicles 1 / 7739
85
 (MedDRA:10072883) Brachydactyly 153 / 7739
86
 (MedDRA:10058668) Clinodactyly 91 / 7739
87
 (HPO:0005679) Dupuytren contracture 3 / 7739
88
 (OMIM) Stiff skin 31 / 7739
89
 (OMIM) Sparse, fine hair 4 / 7739
90
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
91
 (OMIM) Cerebellar atrophy, progressive 6 / 7739
92
 (OMIM) Autism or autistic-like condition 1 / 7739
93
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
94
 (HPO:0000204) Cleft upper lip Occasional [Orphanet] 193 / 7739
95
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
96
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
97
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
98
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
99
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
100
 (HPO:0000272) Malar flattening 277 / 7739
101
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
102
 (HPO:0002878) Respiratory failure rare [HPO:skoehler] 57 / 7739
103
 (HPO:0030053) Stiff skin 3 / 7739
104
 (HPO:0030084) Clinodactyly 90 / 7739