Symptom Information: Sort according to HPO 

1
 (HPO:0007360) Aplasia/Hypoplasia of the cerebellum Occasional [Orphanet] 19215041 IBIS 10 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 22246645 IBIS 990 / 7739
3
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 17958891 IBIS 116 / 7739
4
 (HPO:0000368) Low-set, posteriorly rotated ears Frequent [Orphanet] 23243526 IBIS 38 / 7739
5
 (HPO:0000175) Cleft palate Occasional [Orphanet] 19215041 IBIS 349 / 7739
6
 (HPO:0000176) Submucous cleft hard palate Occasional [Orphanet] 7.5000 % [HPO] 17958891 IBIS 19 / 7739
7
 (HPO:0000185) Cleft soft palate Occasional [Orphanet] 7.5000 % [HPO] 17958891 IBIS 18 / 7739
8
 (HPO:0000193) Bifid uvula Occasional [Orphanet] 20301585 IBIS 66 / 7739
9
 (HPO:0011819) Submucous cleft soft palate Occasional [Orphanet] 7.5000 % [HPO] 17958891 IBIS 12 / 7739
10
 (HPO:0000568) Microphthalmia Occasional [Orphanet] 17103451 IBIS 183 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum Frequent [Orphanet] typical [HPO] 19215041 IBIS 142 / 7739
12
 (HPO:0002079) Hypoplasia of the corpus callosum Frequent [Orphanet] typical [HPO] 19215041 IBIS 161 / 7739
13
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 24715670 IBIS 180 / 7739
14
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 50.0000 % [HPO] 24715670 IBIS 290 / 7739
15
 (HPO:0000307) Pointed chin Occasional [Orphanet] 24715670 IBIS 45 / 7739
16
 (HPO:0000639) Nystagmus Occasional [Orphanet] 17958891 IBIS 555 / 7739
17
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 17958891 IBIS 187 / 7739
18
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 19215041 IBIS 131 / 7739
19
 (HPO:0000072) Hydroureter Occasional [Orphanet] 19215041 IBIS 146 / 7739
20
 (HPO:0000126) Hydronephrosis Occasional [Orphanet] 19215041 IBIS 119 / 7739
21
 (HPO:0000348) High forehead Very frequent [Orphanet] 19215041 IBIS 157 / 7739
22
 (HPO:0000048) Bifid scrotum Occasional [Orphanet] 17103451 IBIS 36 / 7739
23
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 19215041 IBIS 94 / 7739
24
 (HPO:0000232) Everted lower lip vermilion Frequent [Orphanet] 17958891 IBIS 90 / 7739
25
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 17103451 IBIS 212 / 7739
26
 (HPO:0001869) Deep plantar creases Occasional [Orphanet] 17958891 IBIS 14 / 7739
27
 (HPO:0010055) Broad hallux Occasional [Orphanet] 17958891 IBIS 56 / 7739
28
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 24715670 IBIS 78 / 7739
29
 (HPO:0001250) Seizures Frequent [Orphanet] 17958891 IBIS 1245 / 7739
30
 (HPO:0002121) Absence seizures Frequent [Orphanet] 17958891 IBIS 62 / 7739
31
 (HPO:0002213) Fine hair Frequent [Orphanet] 24715670 IBIS 77 / 7739
32
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 19215041 IBIS 316 / 7739
33
 (HPO:0000194) Open mouth Frequent [Orphanet] 19215041 IBIS 70 / 7739
34
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 19215041 IBIS 228 / 7739
35
 (HPO:0002019) Constipation Occasional [Orphanet] 24715670 IBIS 194 / 7739
36
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 17103451 IBIS 253 / 7739
37
 (HPO:0000041) Chordee Frequent [Orphanet] 17103451 IBIS 11 / 7739
38
 (HPO:0000047) Hypospadias Frequent [Orphanet] 33.0000 % [HPO] 19215041 IBIS 250 / 7739
39
 (HPO:0001182) Tapered finger Frequent [Orphanet] 17103451 IBIS 93 / 7739
40
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 24715670 IBIS 366 / 7739
41
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 19215041 IBIS 832 / 7739
42
 (HPO:0008572) External ear malformation Very frequent [Orphanet] 19215041 IBIS 6 / 7739
43
 (HPO:0001822) Hallux valgus Occasional [Orphanet] 17958891 IBIS 70 / 7739
44
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 24715670 IBIS 644 / 7739
45
 (HPO:0010761) Broad columella Frequent [Orphanet] 24715670 IBIS 10 / 7739
46
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 17567886 IBIS 308 / 7739
47
 (HPO:0000028) Cryptorchidism Frequent [Orphanet] 19215041 IBIS 347 / 7739
48
 (HPO:0008689) Bilateral cryptorchidism Frequent [Orphanet] typical [HPO] 17103451 IBIS 38 / 7739
49
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 19215041 IBIS 27 / 7739
50
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 19215041 IBIS 104 / 7739
51
 (HPO:0002558) Supernumerary nipple Occasional [Orphanet] 17103451 IBIS 40 / 7739
52
 (HPO:0004322) Short stature Frequent [Orphanet] 19215041 IBIS 1232 / 7739
53
 (HPO:0000486) Strabismus Occasional [Orphanet] 19215041 IBIS 576 / 7739
54
 (HPO:0000286) Epicanthus Frequent [Orphanet] 19215041 IBIS 371 / 7739
55
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 100.0000 % [HPO] 24715670 IBIS 1089 / 7739
56
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 100.0000 % [HPO] 17958891 IBIS 853 / 7739
57
 (HPO:0001270) Motor delay Very frequent [Orphanet] 100.0000 % [HPO] 17103451 IBIS 322 / 7739
58
 (HPO:0000534) Abnormality of the eyebrow Very frequent [Orphanet] 19215041 IBIS 39 / 7739
59
 (HPO:0000378) Cupped ear 17103451 IBIS 34 / 7739
60
 (HPO:0000494) Downslanted palpebral fissures 17103451 IBIS 328 / 7739
61
 (HPO:0000508) Ptosis 17103451 IBIS 459 / 7739
62
 (HPO:0001488) Bilateral ptosis 17103451 IBIS 42 / 7739
63
 (HPO:0000565) Esotropia 17103451 IBIS 58 / 7739
64
 (HPO:0000684) Delayed eruption of teeth 17958891 IBIS 117 / 7739
65
 (HPO:0000687) Widely spaced teeth 17958891 IBIS 40 / 7739
66
 (HPO:0000767) Pectus excavatum 17103451 IBIS 244 / 7739
67
 (HPO:0000915) Pectus excavatum of inferior sternum 17103451 IBIS 21 / 7739
68
 (HPO:0000768) Pectus carinatum 17103451 IBIS 136 / 7739
69
 (HPO:0000917) Superior pectus carinatum 17103451 IBIS 11 / 7739
70
 (HPO:0001344) Absent speech 17958891 IBIS 57 / 7739
71
 (HPO:0001631) Atria septal defect 19215041 IBIS 274 / 7739
72
 (HPO:0001642) Pulmonic stenosis 19215041 IBIS 89 / 7739
73
 (HPO:0004415) Pulmonary artery stenosis 17103451 IBIS 25 / 7739
74
 (HPO:0002013) Vomiting 17958891 IBIS 191 / 7739
75
 (HPO:0002307) Drooling 17103451 IBIS 43 / 7739
76
 (HPO:0004961) Pulmonary artery sling 19215041 IBIS 1 / 7739
77
 (HPO:0005274) Prominent nasal tip 19215041 IBIS 6 / 7739
78
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 17103451 IBIS 198 / 7739
79
 (HPO:0009765) Low hanging columella 17103451 IBIS 9 / 7739
80
 (HPO:0009909) Uplifted earlobe 19215041 IBIS 4 / 7739
81
 (HPO:0011229) Broad eyebrow 19215041 IBIS 9 / 7739
82
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 17958891 IBIS 64 / 7739
83
 (HPO:0000692) Misalignment of teeth 17958891 IBIS 18 / 7739
84
 (OMIM) Mental retardation, moderate to severe very frequent 19215041 IBIS 20 / 7739
85
 (OMIM) Severely impaired or absent speech 23243526 IBIS 1 / 7739
86
 (OMIM) Repetitive behaviors 23243526 IBIS 2 / 7739
87
 (HPO:0000506) Telecanthus 24715670 IBIS 156 / 7739
88
 (HPO:0000303) Mandibular prognathia 24715670 IBIS 179 / 7739
89
 (HPO:0100024) Conspicuously happy disposition 24715670 IBIS 5 / 7739
90
 (HPO:0000322) Short philtrum 24715670 IBIS 130 / 7739
91
 (HPO:0010747) Medial flaring of the eyebrow 19215041 IBIS 4 / 7739
92
 (HPO:0000464) Abnormality of the neck 19215041 IBIS 31 / 7739
93
 (HPO:0005280) Depressed nasal bridge 19215041 IBIS 381 / 7739
94
 (HPO:0000276) Long face 19215041 IBIS 109 / 7739
95
 (HPO:0002353) EEG abnormality frequent 19215041 IBIS 188 / 7739
96
 (HPO:0001680) Coarctation of aorta 19215041 IBIS 57 / 7739
97
 (HPO:0001650) Aortic valve stenosis 19215041 IBIS 49 / 7739
98
 (HPO:0010882) Pulmonary valve atresia 19215041 IBIS 1 / 7739
99
 (HPO:0001718) Mitral stenosis 19215041 IBIS 10 / 7739
100
 (HPO:0002777) Tracheal stenosis 19215041 IBIS 35 / 7739
101
 (HPO:0001746) Asplenia 19215041 IBIS 19 / 7739
102
 (HPO:0000119) Abnormality of the genitourinary system frequent 19215041 IBIS 34 / 7739
103
 (HPO:0000077) Abnormality of the kidney occasional 19215041 IBIS 73 / 7739
104
 (HPO:0001302) Pachygyria 19215041 IBIS 60 / 7739
105
 (HPO:0002282) Heterotopia 19215041 IBIS 21 / 7739
106
 (HPO:0007099) Arnold-Chiari type I malformation 19215041 IBIS 18 / 7739
107
 (HPO:0000407) Sensorineural hearing impairment 19215041 IBIS 524 / 7739
108
 (HPO:0000023) Inguinal hernia 17103451 IBIS 181 / 7739
109
 (HPO:0001770) Toe syndactyly 17103451 IBIS 149 / 7739
110
 (HPO:0001763) Pes planus 17103451 IBIS 176 / 7739
111
 (HPO:0009487) Ulnar deviation of the hand 17103451 IBIS 5 / 7739
112
 (HPO:0001845) Overlapping toe 17103451 IBIS 18 / 7739
113
 (HPO:0002650) Scoliosis 17103451 IBIS 705 / 7739
114
 (HPO:0000220) Velopharyngeal insufficiency 17103451 IBIS 10 / 7739
115
 (HPO:0001492) Axenfeld anomaly 17103451 IBIS 6 / 7739
116
 (HPO:0000518) Cataract 17103451 IBIS 454 / 7739
117
 (HPO:0012443) Abnormality of brain morphology 17103451 IBIS 45 / 7739
118
 (HPO:0002744) Bilateral cleft lip and palate 17958891 IBIS 7 / 7739
119
 (HPO:0006191) Deep palmar crease 17958891 IBIS 16 / 7739
120
 (MedDRA:10023416) Kidney duplex 17958891 IBIS 1 / 7739
121
 (HPO:0000125) Pelvic kidney 17958891 IBIS 10 / 7739
122
 (HPO:0001847) Long hallux 17958891 IBIS 13 / 7739
123
 (HPO:0010066) Duplication of phalanx of hallux 17958891 IBIS 9 / 7739
124
 (HPO:0008362) Aplasia/Hypoplasia of the hallux 17958891 IBIS 4 / 7739
125
 (HPO:0002123) Generalized myoclonic seizures 17958891 IBIS 62 / 7739
126
 (HPO:0000582) Upslanted palpebral fissure 23243526 IBIS 185 / 7739
127
 (HPO:0000733) Stereotypy 23243526 IBIS 58 / 7739
128
 (HPO:0030680) Abnormality of cardiovascular system morphology 19215041 IBIS 355 / 7739