Symptom Information: Sort according to HPO 

1
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
2
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
3
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
4
 (HPO:0000369) Low-set ears 372 / 7739
5
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
6
 (HPO:0002216) Premature graying of hair Frequent [Orphanet] 43 / 7739
7
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
8
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
9
 (HPO:0000104) Renal agenesis 68 / 7739
10
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
11
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
12
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
13
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
14
 (HPO:0100267) Lip pit Occasional [Orphanet] 9 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
17
 (HPO:0001611) Nasal speech 48 / 7739
18
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
19
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
20
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
21
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
22
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
23
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
24
 (HPO:0002002) Deep philtrum Very frequent [Orphanet] 42 / 7739
25
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
26
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
27
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
28
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
29
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
30
 (HPO:0004334) Dermal atrophy 34 / 7739
31
 (HPO:0004467) Preauricular pit 39 / 7739
32
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
33
 (HPO:0000480) Retinal coloboma 16 / 7739
34
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
35
 (HPO:0000028) Cryptorchidism 347 / 7739
36
 (HPO:0000047) Hypospadias 250 / 7739
37
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
38
 (HPO:0000164) Abnormality of the teeth 291 / 7739
39
 (HPO:0000175) Cleft palate 349 / 7739
40
 (HPO:0000196) Lower lip pit 4 / 7739
41
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
42
 (HPO:0000252) Microcephaly 832 / 7739
43
 (HPO:0000272) Malar flattening 277 / 7739
44
 (HPO:0000316) Hypertelorism 644 / 7739
45
 (HPO:0000347) Micrognathia 426 / 7739
46
 (HPO:0000350) Small forehead 2 / 7739
47
 (HPO:0000396) Overfolded helix 21 / 7739
48
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
49
 (HPO:0000420) Short nasal septum 4 / 7739
50
 (HPO:0000455) Broad nasal tip 67 / 7739
51
 (HPO:0000470) Short neck 345 / 7739
52
 (HPO:0000506) Telecanthus 156 / 7739
53
 (HPO:0000528) Anophthalmia 42 / 7739
54
 (HPO:0000568) Microphthalmia 183 / 7739
55
 (HPO:0000545) Myopia 286 / 7739
56
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
57
 (HPO:0000639) Nystagmus 555 / 7739
58
 (HPO:0000954) Single transverse palmar crease 162 / 7739
59
 (HPO:0000987) Atypical scarring of skin 58 / 7739
60
 (HPO:0001057) Aplasia cutis congenita 7 / 7739
61
 (HPO:0001250) Seizures 1245 / 7739
62
 (HPO:0001256) Intellectual disability, mild 141 / 7739
63
 (HPO:0001804) Hypoplastic fingernail 62 / 7739
64
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
65
 (HPO:0002021) Pyloric stenosis 51 / 7739
66
 (HPO:0002162) Low posterior hairline 88 / 7739
67
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
68
 (HPO:0002211) White forelock 18 / 7739
69
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
70
 (HPO:0002558) Supernumerary nipple 40 / 7739
71
 (HPO:0002808) Kyphosis 289 / 7739
72
 (HPO:0002987) Elbow flexion contracture 64 / 7739
73
 (HPO:0003307) Hyperlordosis 122 / 7739
74
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
75
 (HPO:0004464) Postauricular pit 3 / 7739
76
 (HPO:0004785) Malrotation of colon 3 / 7739
77
 (HPO:0005217) Duplication of internal organs 3 / 7739
78
 (HPO:0005280) Depressed nasal bridge 381 / 7739
79
 (HPO:0005473) Fusion of middle ear ossicles 1 / 7739
80
 (HPO:0006610) Wide intermamillary distance 46 / 7739
81
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
82
 (HPO:0008551) Microtia 98 / 7739
83
 (HPO:0008559) Hypoplastic superior helix 6 / 7739
84
 (HPO:0008606) Supraauricular pit 1 / 7739
85
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
86
 (HPO:0008897) Postnatal growth retardation 50% [HPO:skoehler] 113 / 7739
87
 (HPO:0009623) Proximal placement of thumb 50 / 7739
88
 (HPO:0009778) Short thumb 50 / 7739
89
 (HPO:0009794) Branchial anomaly 5 / 7739
90
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
91
 (HPO:0010566) Hamartoma 7 / 7739
92
 (OMIM) Lacrimal sac fistula 1 / 7739
93
 (OMIM) Orbital dermoid cyst 1 / 7739
94
 (OMIM) Iris pigment epithelial cyst 1 / 7739
95
 (OMIM) Combined hamartoma of the retina and retinal pigment epithelium 1 / 7739
96
 (OMIM) Divided nasal tip 1 / 7739
97
 (OMIM) Pseudocleft 1 / 7739
98
 (OMIM) Incomplete/complete cleft lip 1 / 7739
99
 (OMIM) Mastoid hypoplasia with absence of air cells 1 / 7739
100
 (HPO:0010442) Polydactyly 69 / 7739
101
 (MedDRA:10058668) Clinodactyly 91 / 7739
102
 (OMIM) Subcutaneous scalp cysts 1 / 7739
103
 (OMIM) Hemangiomatous branchial clefts (extend along sternocleidomastoid muscle) 1 / 7739
104
 (OMIM) Ectopic thymus 1 / 7739
105
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
106
 (HPO:0000436) Abnormality of the nasal tip Frequent [Orphanet] 18 / 7739
107
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
108
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
109
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
110
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
111
 (HPO:0010517) Ectopic thymus tissue 1 / 7739