Symptom Information: Sort according to HPO 

1
 (HPO:0011304) Broad thumb 39 / 7739
2
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
3
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
4
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
5
 (HPO:0000369) Low-set ears 45 % [HPO:skoehler] 372 / 7739
6
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0000023) Inguinal hernia 181 / 7739
9
 (HPO:0000431) Wide nasal bridge 290 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0010804) Tented upper lip vermilion Frequent [Orphanet] 47 / 7739
12
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
13
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
14
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
15
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
16
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 49 % [HPO:skoehler] 381 / 7739
17
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
18
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
19
 (HPO:0000126) Hydronephrosis 119 / 7739
20
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
21
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
22
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
23
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 95% [HPO:probinson] 305 / 7739
24
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
25
 (HPO:0003196) Short nose Very frequent [Orphanet] 95% [HPO:probinson] 264 / 7739
26
 (HPO:0010296) Ankyloglossia Frequent [Orphanet] 11 / 7739
27
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
28
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
29
 (HPO:0000637) Long palpebral fissure 21 / 7739
30
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
31
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
32
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
34
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
35
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
36
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
37
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
38
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
39
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
40
 (HPO:0002263) Exaggerated cupid's bow Occasional [Orphanet] 15 / 7739
41
 (HPO:0000527) Long eyelashes 59 % [HPO:skoehler] 46 / 7739
42
 (HPO:0011231) Prominent eyelashes 9 / 7739
43
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
44
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
45
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
46
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
47
 (HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
48
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
49
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
50
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
51
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
52
 (HPO:0000278) Retrognathia 37 % [HPO:skoehler] 100 / 7739
53
 (HPO:0000347) Micrognathia 426 / 7739
54
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
55
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
56
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
57
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
58
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
59
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
60
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
61
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
62
 (HPO:0001355) Megalencephaly 39 / 7739
63
 (HPO:0004482) Relative macrocephaly 44 / 7739
64
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
65
 (HPO:0000028) Cryptorchidism 347 / 7739
66
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
67
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
68
 (HPO:0000470) Short neck Occasional [Orphanet] 31 % [HPO:skoehler] 345 / 7739
69
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
70
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
71
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
72
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
73
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
74
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
75
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
76
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
77
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
78
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
79
 (HPO:0004322) Short stature Very frequent [Orphanet] 97% [HPO:probinson] 1232 / 7739
80
 (HPO:0010297) Bifid tongue Frequent [Orphanet] 59 % [HPO:skoehler] 17 / 7739
81
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
82
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
83
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
84
 (HPO:0001249) Intellectual disability 1089 / 7739
85
 (HPO:0001263) Global developmental delay 853 / 7739
86
 (HPO:0000075) Renal duplication 5 / 7739
87
 (HPO:0000158) Macroglossia 119 / 7739
88
 (HPO:0000207) Triangular mouth 8 / 7739
89
 (HPO:0000219) Thin upper lip vermilion 29 % [HPO:skoehler] 112 / 7739
90
 (HPO:0000260) Wide anterior fontanel 55 / 7739
91
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
92
 (HPO:0000499) Abnormality of the eyelashes Frequent [Orphanet] 35 / 7739
93
 (HPO:0000678) Dental crowding 65 / 7739
94
 (HPO:0000696) Delayed eruption of permanent teeth 12 / 7739
95
 (HPO:0000902) Rib fusion 19 / 7739
96
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
97
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
98
 (HPO:0001705) Right ventricular outlet obstruction 2 / 7739
99
 (HPO:0001837) Broad toe 13 / 7739
100
 (HPO:0001853) Bifid distal phalanx of toe 3 / 7739
101
 (HPO:0002164) Nail dysplasia 35 % [HPO:skoehler] 82 / 7739
102
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
103
 (HPO:0002944) Thoracolumbar scoliosis 13 / 7739
104
 (HPO:0002948) Vertebral fusion 28 / 7739
105
 (HPO:0002983) Micromelia 130 / 7739
106
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
107
 (HPO:0004220) Short middle phalanx of the 5th finger 17 / 7739
108
 (HPO:0004590) Hypoplastic sacrum 4 / 7739
109
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 8 / 7739
110
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
111
 (HPO:0008467) Thoracic hemivertebrae 3 / 7739
112
 (HPO:0009466) Radial deviation of finger 101 / 7739
113
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
114
 (HPO:0009883) Duplication of the distal phalanx of hand 2 / 7739
115
 (HPO:0010292) Absent uvula 2 / 7739
116
 (HPO:0200055) Small hand 84 % [HPO:skoehler] 71 / 7739
117
 (HPO:0000929) Abnormality of the skull 53 / 7739
118
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
119
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
120
 (OMIM) Flat facial profile 6 / 7739
121
 (OMIM) Short upturned nose 6 / 7739
122
 (OMIM) Downturned mouth corners (95%) 1 / 7739
123
 (HPO:0001551) Abnormality of the umbilicus 4 / 7739
124
 (OMIM) Small labia minora (50%) 2 / 7739
125
 (HPO:0009827) Amelia 12 / 7739
126
 (HPO:0009829) Phocomelia 20 / 7739
127
 (OMIM) Limited elbow supination (37%) 1 / 7739
128
 (MedDRA:10072883) Brachydactyly 153 / 7739
129
 (MedDRA:10058668) Clinodactyly 91 / 7739
130
 (HPO:0009767) Aplasia/Hypoplasia of the phalanges of the hand 5 / 7739
131
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
132
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
133
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
134
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
135
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
136
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
137
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
138
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
139
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
140
 (HPO:0012905) Euryblepharon Frequent [Orphanet] 12 / 7739
141
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
142
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
143
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
144
 (HPO:0000272) Malar flattening 277 / 7739
145
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
146
 (HPO:0012368) Flat face 106 / 7739
147
 (HPO:0030084) Clinodactyly 90 / 7739