Symptom Information: Sort according to HPO 

1
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
2
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
3
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
4
 (HPO:0001724) Aortic dilatation Frequent [Orphanet] 24 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
7
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
8
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
13
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
14
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
15
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
16
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
17
 (HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
18
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
19
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
20
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
24
 (HPO:0000343) Long philtrum 262 / 7739
25
 (HPO:0000394) Lop ear 6 / 7739
26
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
27
 (HPO:0000545) Myopia 286 / 7739
28
 (HPO:0000678) Dental crowding 65 / 7739
29
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
30
 (HPO:0001083) Ectopia lentis 45 / 7739
31
 (HPO:0001132) Lens subluxation 13 / 7739
32
 (HPO:0001256) Intellectual disability, mild 141 / 7739
33
 (HPO:0001659) Aortic regurgitation 36 / 7739
34
 (HPO:0001762) Talipes equinovarus 309 / 7739
35
 (HPO:0001885) Short 2nd toe 4 / 7739
36
 (HPO:0002007) Frontal bossing 366 / 7739
37
 (HPO:0002119) Ventriculomegaly 253 / 7739
38
 (HPO:0002553) Highly arched eyebrow 92 / 7739
39
 (HPO:0002827) Hip dislocation 94 / 7739
40
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
41
 (HPO:0000377) Abnormality of the pinna 111 / 7739
42
 (OMIM) 'Key-hole' iris, retina, choroid coloboma 1 / 7739
43
 (OMIM) Genua valgum 2 / 7739
44
 (MedDRA:10072883) Brachydactyly 153 / 7739
45
 (OMIM) Bulbous thumbs 1 / 7739
46
 (HPO:0001252) Muscular hypotonia 990 / 7739
47
 (HPO:0001324) Muscle weakness 859 / 7739
48
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
49
 (HPO:0010547) Muscle flaccidity 466 / 7739
50
 (OMIM) Seizures, early onset 3 / 7739
51
 (HPO:0001273) Abnormality of the corpus callosum 20 / 7739
52
 (OMIM) Reduced white matter 1 / 7739
53
 (OMIM) Thalamic hypoplasia 1 / 7739
54
 (OMIM) Abnormal septum pellucidum 1 / 7739
55
 (OMIM) [DEL]Autistic features 43 / 7739
56
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
57
 (HPO:0000479) Abnormality of the retina Very frequent [Orphanet] 74 / 7739
58
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
59
 (HPO:0012471) Thick vermilion border Occasional [Orphanet] 115 / 7739
60
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
61
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
64
 (HPO:0003593) Infantile onset 249 / 7739