Symptom Information: Sort according to HPO 

1
 (HPO:0001407) Hepatic cysts 9 / 7739
2
 (HPO:0006706) Cystic liver disease Occasional [Orphanet] 8 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
6
 (HPO:0012092) Abnormality of exocrine pancreas physiology Occasional [Orphanet] 9 / 7739
7
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
8
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
10
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
11
 (HPO:0100267) Lip pit Occasional [Orphanet] 9 / 7739
12
 (HPO:0000093) Proteinuria Occasional [Orphanet] 169 / 7739
13
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
14
 (HPO:0001161) Hand polydactyly Frequent [Orphanet] 71 / 7739
15
 (HPO:0001850) Abnormality of the tarsal bones Occasional [Orphanet] 40 / 7739
16
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
17
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
18
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
19
 (HPO:0000187) Broad alveolar ridges Very frequent [Orphanet] 14 / 7739
20
 (HPO:0009085) Alveolar ridge overgrowth 4 / 7739
21
 (HPO:0010285) Oral synechia Very frequent [Orphanet] 31 / 7739
22
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
23
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
24
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
25
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
26
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
27
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
28
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
29
 (HPO:0001056) Milia 24 / 7739
30
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
31
 (HPO:0100612) Odontogenic neoplasm Occasional [Orphanet] 5 / 7739
32
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
33
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
34
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
35
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
36
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
37
 (HPO:0001829) Foot polydactyly Frequent [Orphanet] 41 / 7739
38
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
39
 (HPO:0000218) High palate 356 / 7739
40
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
41
 (HPO:0009933) Narrow naris Frequent [Orphanet] 16 / 7739
42
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
43
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
44
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
45
 (HPO:0001177) Preaxial hand polydactyly Occasional [Orphanet] 59 / 7739
46
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
47
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
48
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
49
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
50
 (HPO:0002299) Brittle hair Occasional [Orphanet] 52 / 7739
51
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
52
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
53
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
54
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
55
 (HPO:0010579) Cone-shaped epiphysis Frequent [Orphanet] 54 / 7739
56
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
57
 (HPO:0010297) Bifid tongue Very frequent [Orphanet] frequent [HPO:skoehler] 17 / 7739
58
 (HPO:0000199) Tongue nodules 5 / 7739
59
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
60
 (HPO:0001249) Intellectual disability 1089 / 7739
61
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
62
 (HPO:0000138) Ovarian cyst 25 / 7739
63
 (HPO:0000161) Median cleft lip 27 / 7739
64
 (HPO:0000180) Lobulated tongue 8 / 7739
65
 (HPO:0000238) Hydrocephalus 278 / 7739
66
 (HPO:0000252) Microcephaly 832 / 7739
67
 (HPO:0000308) Microretrognathia 78 / 7739
68
 (HPO:0000324) Facial asymmetry 57 / 7739
69
 (HPO:0000369) Low-set ears 372 / 7739
70
 (HPO:0000670) Carious teeth 145 / 7739
71
 (HPO:0001159) Syndactyly 140 / 7739
72
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
73
 (HPO:0001395) Hepatic fibrosis 67 / 7739
74
 (HPO:0001627) Abnormal heart morphology 19 / 7739
75
 (HPO:0001737) Pancreatic cysts 29 % [HPO:skoehler] 15 / 7739
76
 (HPO:0001780) Abnormality of toe 5 / 7739
77
 (HPO:0002132) Porencephaly 18 / 7739
78
 (HPO:0002281) Gray matter heterotopias 4 / 7739
79
 (HPO:0002444) Hypothalamic hamartoma 5 / 7739
80
 (HPO:0002536) Abnormal cortical gyration 72 / 7739
81
 (HPO:0002617) Aneurysm Occasional [Orphanet] 34 / 7739
82
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
83
 (HPO:0004322) Short stature 1232 / 7739
84
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
85
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
86
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
87
 (HPO:0006349) Agenesis of permanent teeth 13 / 7739
88
 (HPO:0008070) Sparse hair 94 / 7739
89
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
90
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
91
 (HPO:0010442) Polydactyly 69 / 7739
92
 (HPO:0011069) Increased number of teeth 39 / 7739
93
 (HPO:0100702) Arachnoid cyst 15 / 7739
94
 (OMIM) Hypoplasia of the malar bones 1 / 7739
95
 (OMIM) Hyperplastic oral frenuli 1 / 7739
96
 (OMIM) Buccal frenuli 1 / 7739
97
 (OMIM) Pseudocleft of the upper lip 1 / 7739
98
 (OMIM) Tongue hamartoma 3 / 7739
99
 (OMIM) Irregular margin of the lips 1 / 7739
100
 (OMIM) Anomalous anterior teeth 1 / 7739
101
 (OMIM) Fibrocystic liver (45%) 1 / 7739
102
 (OMIM) Dilatation and beading of the intrahepatic bile ducts 1 / 7739
103
 (OMIM) Adult onset polycystic kidney (50%) 1 / 7739
104
 (HPO:0001167) Abnormality of finger 29 / 7739
105
 (MedDRA:10058668) Clinodactyly 91 / 7739
106
 (MedDRA:10072883) Brachydactyly 153 / 7739
107
 (OMIM) Polydactyly, preaxial or postaxial 4 / 7739
108
 (OMIM) X-ray shows irregular pattern of radiolucency and/or spicule-like formation in metacarpals and phalanges 1 / 7739
109
 (OMIM) Duplication of the hallux 2 / 7739
110
 (OMIM) Milia of upper face and ears (infancy) 1 / 7739
111
 (OMIM) Dry, rough, sparse hair 1 / 7739
112
 (OMIM) Mental retardation, variable 7 / 7739
113
 (OMIM) Central nervous system malformations (40%) 1 / 7739
114
 (HPO:0002475) Myelomeningocele rare [HPO:skoehler] 29 / 7739
115
 (OMIM) Stenosis of the aqueduct of Sylvius (rare) 1 / 7739
116
 (MedDRA:10057840) Major depression 1 / 7739
117
 (OMIM) Abnormal liver enzymes in those with hepatic cysts or fibrosis 1 / 7739
118
 (OMIM) Proteinuria in those with cystic kidneys 1 / 7739
119
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
120
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
121
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
122
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
123
 (HPO:0100649) Neoplasm of the oral cavity Frequent [Orphanet] 20 / 7739
124
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
125
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
126
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
127
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
128
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
129
 (HPO:0003577) Congenital onset 133 / 7739
130
 (HPO:0030084) Clinodactyly 90 / 7739