Symptom Information: Sort according to HPO 

1
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
5
 (HPO:0009919) Retinoblastoma Frequent [Orphanet] 3 / 7739
6
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
7
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
12
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
13
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
14
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
16
 (HPO:0000243) Trigonocephaly Frequent [Orphanet] 40 / 7739
17
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
19
 (HPO:0011262) Crimped helix Very frequent [Orphanet] 12 / 7739
20
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
23
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0007477) Abnormal dermatoglyphics Frequent [Orphanet] 72 / 7739
26
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
27
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
28
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
29
 (HPO:0000268) Dolichocephaly 144 / 7739
30
 (HPO:0000337) Broad forehead 116 / 7739
31
 (HPO:0000414) Bulbous nose 63 / 7739
32
 (HPO:0000601) Hypotelorism 83 / 7739
33
 (HPO:0000750) Delayed speech and language development 197 / 7739
34
 (HPO:0002002) Deep philtrum 42 / 7739
35
 (HPO:0002007) Frontal bossing 366 / 7739
36
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
37
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
38
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
39
 (OMIM) High, broad forehead 4 / 7739
40
 (OMIM) Deep, prominent philtrum 1 / 7739
41
 (OMIM) Thick earlobes 1 / 7739
42
 (OMIM) Anteverted ears 5 / 7739
43
 (OMIM) Short, bulbous nose 1 / 7739
44
 (OMIM) Thick everted lower lip (deletion patients) 4 / 7739
45
 (HPO:0001269) Hemiparesis 51 / 7739
46
 (HPO:0002301) Hemiplegia 42 / 7739
47
 (HPO:0004374) Hemiplegia/hemiparesis 158 / 7739
48
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
49
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
50
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
51
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
52
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
53
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (HPO:0040080) Anteverted ears 6 / 7739