Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
2
 (HPO:0002664) Neoplasm Very frequent [Orphanet] 111 / 7739
3
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
4
 (HPO:0000464) Abnormality of the neck Frequent [Orphanet] 31 / 7739
5
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 12116218 IBIS 179 / 7739
6
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 290 / 7739
7
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
8
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 9096761 IBIS 644 / 7739
9
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
10
 (HPO:0002937) Hemivertebrae 9096761 IBIS 41 / 7739
11
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
12
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
13
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
14
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
15
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
16
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
17
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
18
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
19
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
20
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
21
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
22
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
23
 (HPO:0001270) Motor delay 322 / 7739
24
 (HPO:0000175) Cleft palate 349 / 7739
25
 (HPO:0000204) Cleft upper lip 193 / 7739
26
 (HPO:0000242) Parietal bossing 11 / 7739
27
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
28
 (HPO:0000280) Coarse facial features 9096761 IBIS 189 / 7739
29
 (HPO:0000568) Microphthalmia 183 / 7739
30
 (HPO:0000766) Abnormality of the sternum 9096761 IBIS 31 / 7739
31
 (HPO:0000773) Short ribs 70 / 7739
32
 (HPO:0000892) Bifid ribs 9096761 IBIS 4 / 7739
33
 (HPO:0000912) Sprengel anomaly 9096761 IBIS 51 / 7739
34
 (HPO:0001056) Milia 24 / 7739
35
 (HPO:0001144) Orbital cyst 4 / 7739
36
 (HPO:0002414) Spina bifida 47 / 7739
37
 (HPO:0002671) Basal cell carcinoma 18 / 7739
38
 (HPO:0002751) Kyphoscoliosis 131 / 7739
39
 (HPO:0002885) Medulloblastoma Occasional [Orphanet] 20 / 7739
40
 (HPO:0002948) Vertebral fusion 9096761 IBIS 28 / 7739
41
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
42
 (HPO:0004280) Irregular ossification of hand bones 9096761 IBIS 1 / 7739
43
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
44
 (HPO:0004795) Hamartomatous stomach polyps 1 / 7739
45
 (HPO:0005449) Bridged sella turcica 9096761 IBIS 2 / 7739
46
 (HPO:0005462) Calcification of falx cerebri 6 / 7739
47
 (HPO:0005815) Supernumerary ribs 9 / 7739
48
 (HPO:0008422) Vertebral wedging 7 / 7739
49
 (HPO:0009650) Short distal phalanx of the thumb 3 / 7739
50
 (HPO:0009729) Cardiac rhabdomyoma 5 / 7739
51
 (HPO:0010044) Short 4th metacarpal 14 / 7739
52
 (HPO:0010442) Polydactyly 69 / 7739
53
 (HPO:0010603) Odontogenic keratocysts of the jaw 3 / 7739
54
 (HPO:0010609) Skin tags 12 / 7739
55
 (HPO:0010610) Palmar pits 9096761 IBIS 3 / 7739
56
 (HPO:0010612) Plantar pits 9096761 IBIS 2 / 7739
57
 (HPO:0010617) Cardiac fibroma 1 / 7739
58
 (HPO:0010618) Ovarian fibroma 9096761 IBIS 2 / 7739
59
 (HPO:0200021) Down-sloping shoulders 18 / 7739
60
 (OMIM) Broad facies 1 / 7739
61
 (OMIM) Frontal and biparietal bossing 1 / 7739
62
 (OMIM) Mild mandibular prognathism 1 / 7739
63
 (OMIM) Odontogenic keratocysts of jaws 1 / 7739
64
 (OMIM) Lateral displacement of the inner canthi 1 / 7739
65
 (OMIM) Subconjunctival epithelial cysts 1 / 7739
66
 (OMIM) Congenital lung cyst 1 / 7739
67
 (OMIM) Synostotic ribs 1 / 7739
68
 (OMIM) Lymphomesenteric cysts, often calcified 1 / 7739
69
 (HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
70
 (OMIM) Abnormal cervical vertebrae 1 / 7739
71
 (MedDRA:10072883) Brachydactyly 153 / 7739
72
 (OMIM) Pits of palms and soles 1 / 7739
73
 (OMIM) Calicification of the falx cerebri 1 / 7739
74
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
75
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
76
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
77
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
78
 (HPO:0100544) Neoplasm of the heart Occasional [Orphanet] 7 / 7739
79
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
80
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
81
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
82
 (HPO:0007378) Neoplasm of the gastrointestinal tract Occasional [Orphanet] 11 / 7739
83
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
84
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
85
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
86
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
87
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
88
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
89
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
90
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
91
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
92
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
93
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
94
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
95
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
96
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
97
 (HPO:0009733) Glioma Occasional [Orphanet] 8 / 7739
98
 (HPO:0000929) Abnormality of the skull Occasional [Orphanet] 53 / 7739
99
 (HPO:0000137) Abnormality of the ovary Frequent [Orphanet] 41 / 7739
100
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
101
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
102
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
103
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
104
 (HPO:0000588) Optic nerve coloboma Occasional [Orphanet] 27 / 7739
105
 (HPO:0100730) Bronchogenic cyst Occasional [Orphanet] 5 / 7739
106
 (HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
107
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
108
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
109
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
110
 (HPO:0005344) Abnormality of the carotid arteries Occasional [Orphanet] 6 / 7739
111
 (HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
112
 (HPO:0012581) Solitary renal cyst Occasional [Orphanet] 7 / 7739
113
 (HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
114
 (HPO:0012062) Bone cyst Very frequent [Orphanet] 19 / 7739
115
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
116
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
117
 (HPO:0200008) Intestinal polyposis Frequent [Orphanet] 23 / 7739
118
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
119
 (HPO:0100649) Neoplasm of the oral cavity Frequent [Orphanet] 20 / 7739
120
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
121
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
122
 (HPO:0001425) Heterogeneous 132 / 7739
123
 (HPO:0003828) Variable expressivity 130 / 7739