Symptom Information: Sort according to HPO 

1
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
2
 (HPO:0001302) Pachygyria 60 / 7739
3
 (HPO:0002126) Polymicrogyria 64 / 7739
4
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
5
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
6
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
7
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
8
 (HPO:0001653) Mitral regurgitation 64 / 7739
9
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] 119 / 7739
10
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
11
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
12
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
13
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
14
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
15
 (HPO:0001355) Megalencephaly 39 / 7739
16
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
17
 (HPO:0000508) Ptosis 459 / 7739
18
 (HPO:0000618) Blindness 124 / 7739
19
 (HPO:0000637) Long palpebral fissure 21 / 7739
20
 (HPO:0001090) Large eyes 20 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0001631) Atria septal defect 274 / 7739
23
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
24
 (HPO:0002007) Frontal bossing 366 / 7739
25
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
26
 (HPO:0002187) Intellectual disability, profound 44 / 7739
27
 (HPO:0002808) Kyphosis 289 / 7739
28
 (HPO:0002943) Thoracic scoliosis 12 / 7739
29
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
30
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
31
 (HPO:0006380) Knee flexion contracture 56 / 7739
32
 (HPO:0007074) Thick corpus callosum 5 / 7739
33
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
34
 (HPO:0010775) Vascular ring 3 / 7739
35
 (HPO:0100259) Postaxial polydactyly 85 / 7739
36
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
37
 (OMIM) Small birth length 1 / 7739
38
 (OMIM) Pale optic nerves 2 / 7739
39
 (OMIM) Low bridge 1 / 7739
40
 (OMIM) Tent-shaped mouth 2 / 7739
41
 (OMIM) Prominent philtral groove 1 / 7739
42
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
43
 (HPO:0000185) Cleft soft palate 18 / 7739
44
 (HPO:0011819) Submucous cleft soft palate 12 / 7739
45
 (OMIM) Duplicated kidney 4 / 7739
46
 (OMIM) S-scoliosis of thoracic spine 1 / 7739
47
 (OMIM) Diffuse hypotonia 3 / 7739
48
 (OMIM) No language 1 / 7739
49
 (OMIM) Asperger-like features 1 / 7739
50
 (HPO:0001347) Hyperreflexia 363 / 7739
51
 (HPO:0002267) Exaggerated startle response 42 / 7739
52
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
53
 (OMIM) Mildly thin corpus callosum 1 / 7739
54
 (OMIM) Enlarged white matter 1 / 7739
55
 (OMIM) Focal pachygyria 2 / 7739
56
 (OMIM) Wide Sylvian fissures with incomplete opercularization 1 / 7739
57
 (OMIM) Ventricles slightly enlarged 1 / 7739
58
 (OMIM) Cavum septi pellucidi 3 / 7739
59
 (OMIM) Cavum Vergae 4 / 7739
60
 (OMIM) Small cavum septum 1 / 7739
61
 (OMIM) Increased risk of medulloblastoma (rare) 1 / 7739
62
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739