Symptom Information: Sort according to HPO 

1
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
2
 (HPO:0002036) Hiatus hernia 24 / 7739
3
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
4
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
7
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
8
 (HPO:0000528) Anophthalmia 42 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0011478) True anophthalmia 17 / 7739
11
 (HPO:0000023) Inguinal hernia 181 / 7739
12
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
13
 (HPO:0000610) Abnormality of the choroid Frequent [Orphanet] 11 / 7739
14
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
15
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
16
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
17
 (HPO:0000307) Pointed chin Occasional [Orphanet] 45 / 7739
18
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
19
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
20
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
21
 (HPO:0000126) Hydronephrosis 119 / 7739
22
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
23
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
24
 (HPO:0200043) Verrucae 11 / 7739
25
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
26
 (HPO:0000085) Horseshoe kidney 39 / 7739
27
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
28
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
29
 (HPO:0011718) Abnormality of the pulmonary veins Occasional [Orphanet] 6 / 7739
30
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
31
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
32
 (HPO:0004334) Dermal atrophy Very frequent [Orphanet] 34 / 7739
33
 (HPO:0001083) Ectopia lentis Frequent [Orphanet] 45 / 7739
34
 (HPO:0001132) Lens subluxation 13 / 7739
35
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
36
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
37
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
38
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
39
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
40
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
41
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
42
 (HPO:0001171) Split hand 72 / 7739
43
 (HPO:0001180) Hand oligodactyly 17 / 7739
44
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
45
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
46
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
47
 (HPO:0001009) Telangiectasia 46 / 7739
48
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
49
 (HPO:0000446) Narrow nasal bridge Occasional [Orphanet] 29 / 7739
50
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
51
 (HPO:0100670) Rough bone trabeculation Very frequent [Orphanet] 12 / 7739
52
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
53
 (HPO:0006554) Acute hepatic failure Occasional [Orphanet] 20 / 7739
54
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
55
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
56
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
57
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
58
 (HPO:0000668) Hypodontia 81 / 7739
59
 (HPO:0000677) Oligodontia 41 / 7739
60
 (HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
61
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
62
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
63
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
64
 (HPO:0009125) Lipodystrophy Occasional [Orphanet] 54 / 7739
65
 (HPO:0000526) Aniridia 12 / 7739
66
 (HPO:0001089) Iris atrophy 8 / 7739
67
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
68
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
69
 (HPO:0001249) Intellectual disability 1089 / 7739
70
 (HPO:0000028) Cryptorchidism 347 / 7739
71
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
72
 (HPO:0000066) Labial hypoplasia 10 / 7739
73
 (HPO:0000073) Ureteral duplication 11 / 7739
74
 (HPO:0000175) Cleft palate 349 / 7739
75
 (HPO:0000204) Cleft upper lip 193 / 7739
76
 (HPO:0000238) Hydrocephalus 278 / 7739
77
 (HPO:0000252) Microcephaly 832 / 7739
78
 (HPO:0000324) Facial asymmetry 57 / 7739
79
 (HPO:0000377) Abnormality of the pinna 111 / 7739
80
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
81
 (HPO:0000410) Mixed hearing impairment 22 / 7739
82
 (HPO:0000455) Broad nasal tip 67 / 7739
83
 (HPO:0000505) Visual impairment 297 / 7739
84
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
85
 (HPO:0000639) Nystagmus 555 / 7739
86
 (HPO:0000648) Optic atrophy 238 / 7739
87
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
88
 (HPO:0000773) Short ribs 70 / 7739
89
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
90
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
91
 (HPO:0001374) Congenital hip dislocation 51 / 7739
92
 (HPO:0001388) Joint laxity 117 / 7739
93
 (HPO:0001540) Diastasis recti 23 / 7739
94
 (HPO:0001545) Anteriorly placed anus 55 / 7739
95
 (HPO:0001600) Abnormality of the larynx 15 / 7739
96
 (HPO:0001802) Absent toenail 6 / 7739
97
 (HPO:0001817) Absent fingernail 2 / 7739
98
 (HPO:0001829) Foot polydactyly 41 / 7739
99
 (HPO:0001849) Foot oligodactyly 9 / 7739
100
 (HPO:0002164) Nail dysplasia 82 / 7739
101
 (HPO:0002232) Patchy alopecia 4 / 7739
102
 (HPO:0002299) Brittle hair 52 / 7739
103
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
104
 (HPO:0002557) Hypoplastic nipples 33 / 7739
105
 (HPO:0002558) Supernumerary nipple 40 / 7739
106
 (HPO:0002566) Intestinal malrotation 89 / 7739
107
 (HPO:0003191) Cleft ala nasi 8 / 7739
108
 (HPO:0003298) Spina bifida occulta 67 / 7739
109
 (HPO:0004322) Short stature 1232 / 7739
110
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
111
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
112
 (HPO:0006608) Midclavicular hypoplasia 1 / 7739
113
 (HPO:0006638) Midclavicular aplasia 1 / 7739
114
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
115
 (HPO:0007546) Linear hyperpigmentation 2 / 7739
116
 (HPO:0007588) Reticular hyperpigmentation 9 / 7739
117
 (HPO:0008070) Sparse hair 94 / 7739
118
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
119
 (HPO:0009381) Short finger 45 / 7739
120
 (HPO:0009803) Short phalanx of finger 79 / 7739
121
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
122
 (HPO:0010049) Short metacarpal 99 / 7739
123
 (HPO:0010622) Neoplasm of the skeletal system Occasional [Orphanet] 30 / 7739
124
 (HPO:0010740) Osteopathia striata 3 / 7739
125
 (HPO:0010743) Short metatarsal 56 / 7739
126
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
127
 (OMIM) Microcephaly, mild 4 / 7739
128
 (OMIM) Protruding, simple ears 1 / 7739
129
 (OMIM) Notched incisors 1 / 7739
130
 (OMIM) Papillomatosis 4 / 7739
131
 (OMIM) Asymmetric breast 1 / 7739
132
 (OMIM) Esophageal papillomas 1 / 7739
133
 (OMIM) Bifid ureter 2 / 7739
134
 (OMIM) Skeletal asymmetry 1 / 7739
135
 (OMIM) Asymmetric skull 6 / 7739
136
 (OMIM) Failure of pubic bone fusion 1 / 7739
137
 (HPO:0001159) Syndactyly 140 / 7739
138
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
139
 (HPO:0009700) Finger symphalangism 55 / 7739
140
 (MedDRA:10072883) Brachydactyly 153 / 7739
141
 (HPO:0012165) Oligodactyly 18 / 7739
142
 (HPO:0100257) Ectrodactyly 27 / 7739
143
 (HPO:0100259) Postaxial polydactyly 85 / 7739
144
 (HPO:0010442) Polydactyly 69 / 7739
145
 (OMIM) Linear or reticular hyperpigmentation 1 / 7739
146
 (OMIM) Localized cutaneous deposits of superficial fat 1 / 7739
147
 (OMIM) Arborescent papillomas (axillae, periumbilical area, anus, vulva) 1 / 7739
148
 (OMIM) Hypoplastic fingertip epidermal ridges 1 / 7739
149
 (OMIM) Hidrocystomas 1 / 7739
150
 (HPO:0008404) Nail dystrophy 89 / 7739
151
 (HPO:0002475) Myelomeningocele 29 / 7739
152
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
153
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
154
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
155
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
156
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
157
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
158
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
159
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
160
 (HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
161
 (HPO:0045026) Abnormality of the mediastinum Occasional [Orphanet] 6 / 7739
162
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
163
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
164
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
165
 (HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
166
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
167
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
168
 (HPO:0001839) Split foot 28 / 7739
169
 (HPO:0007663) Reduced visual acuity 100 / 7739
170
 (HPO:0030037) Bifid ureter 2 / 7739