Symptom Information: Sort according to HPO 

1
 (HPO:0002676) Cloverleaf skull Occasional [Orphanet] 14 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000193) Bifid uvula 66 / 7739
7
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
8
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
9
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
10
 (HPO:0004397) Ectopic anus 2 / 7739
11
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
12
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
13
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
14
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
15
 (HPO:0001331) Absent septum pellucidum 16 / 7739
16
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
17
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
18
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
19
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
20
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
21
 (HPO:0000189) Narrow palate 45 / 7739
22
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
23
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
24
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
25
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
26
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
27
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
28
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
29
 (HPO:0000452) Choanal stenosis 23 / 7739
30
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
31
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
32
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
33
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
34
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
35
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
36
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
37
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
38
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
39
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
40
 (HPO:0001249) Intellectual disability 1089 / 7739
41
 (HPO:0010650) Hypoplasia of the premaxilla Frequent [Orphanet] 39 / 7739
42
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
43
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
44
 (HPO:0000028) Cryptorchidism 347 / 7739
45
 (HPO:0000126) Hydronephrosis 119 / 7739
46
 (HPO:0000148) Vaginal atresia 16 / 7739
47
 (HPO:0000244) Brachyturricephaly 9 / 7739
48
 (HPO:0000337) Broad forehead 116 / 7739
49
 (HPO:0000348) High forehead 157 / 7739
50
 (HPO:0000365) Hearing impairment 539 / 7739
51
 (HPO:0000389) Chronic otitis media 64 / 7739
52
 (HPO:0000586) Shallow orbits 23 / 7739
53
 (HPO:0000689) Dental malocclusion 114 / 7739
54
 (HPO:0001061) Acne 33 / 7739
55
 (HPO:0001162) Postaxial hand polydactyly Rare [HPO:probinson] 119 / 7739
56
 (HPO:0001177) Preaxial hand polydactyly Rare [HPO:probinson] 59 / 7739
57
 (HPO:0001355) Megalencephaly 39 / 7739
58
 (HPO:0001507) Growth abnormality 36 / 7739
59
 (HPO:0001629) Ventricular septal defect 316 / 7739
60
 (HPO:0002021) Pyloric stenosis 51 / 7739
61
 (HPO:0002032) Esophageal atresia 19 / 7739
62
 (HPO:0002623) Overriding aorta 8 / 7739
63
 (HPO:0003041) Humeroradial synostosis 19 / 7739
64
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
65
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
66
 (HPO:0004468) Anomalous tracheal cartilage 2 / 7739
67
 (HPO:0004487) Acrobrachycephaly 1 / 7739
68
 (HPO:0004635) Cervical C5/C6 vertebrae fusion 2 / 7739
69
 (HPO:0005048) Synostosis of carpal bones 39 / 7739
70
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
71
 (HPO:0007291) Posterior fossa cyst 10 / 7739
72
 (HPO:0007343) Limbic malformations 1 / 7739
73
 (HPO:0008111) Broad distal hallux 3 / 7739
74
 (HPO:0009642) Broad distal phalanx of the thumb 4 / 7739
75
 (HPO:0011800) Midface retrusion 221 / 7739
76
 (HPO:0100702) Arachnoid cyst 15 / 7739
77
 (OMIM) Deceleration of linear growth during childhood 1 / 7739
78
 (OMIM) Birth weight normal 14 / 7739
79
 (OMIM) Birth length normal 15 / 7739
80
 (OMIM) Late-closing fontanel 1 / 7739
81
 (OMIM) High, broad forehead 4 / 7739
82
 (OMIM) Abnormal semicircular canals 1 / 7739
83
 (OMIM) Choanal atresia or stenosis 3 / 7739
84
 (OMIM) Jugular foraminal stenosis 1 / 7739
85
 (OMIM) Cervical vertebrae fusion, usually at C5 to C6 1 / 7739
86
 (OMIM) Fusion of carpal bones, especially capitate and hamate 1 / 7739
87
 (OMIM) Symmetric osseous and/or cutaneous syndactyly of hands 1 / 7739
88
 (OMIM) Broad distal phalanx of thumb 1 / 7739
89
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
90
 (HPO:0100258) Preaxial polydactyly 39 / 7739
91
 (HPO:0100259) Postaxial polydactyly 85 / 7739
92
 (OMIM) Symmetric osseous and/or cutaneous syndactyly of feet 1 / 7739
93
 (OMIM) Moderate to severe acne 1 / 7739
94
 (OMIM) Single nail common to digits 2 to 4 1 / 7739
95
 (OMIM) Mental retardation, variable 7 / 7739
96
 (OMIM) Low-lying cerebellar tonsils 1 / 7739
97
 (OMIM) Posterior fossa arachnoid cyst 1 / 7739
98
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
99
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
100
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
101
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
102
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
103
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
104
 (HPO:0012226) Ovarian teratoma Occasional [Orphanet] 2 / 7739
105
 (HPO:0008905) Rhizomelia Occasional [Orphanet] 85 / 7739
106
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
107
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
108
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
109
 (HPO:0000272) Malar flattening 277 / 7739