Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
3
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
4
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0000153) Abnormality of the mouth Occasional [Orphanet] 60 / 7739
7
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
8
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
9
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
10
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
11
 (HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
12
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
13
 (HPO:0001161) Hand polydactyly Very frequent [Orphanet] 71 / 7739
14
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
15
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
16
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
17
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
18
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
19
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
20
 (HPO:0001355) Megalencephaly 39 / 7739
21
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
22
 (HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
23
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
24
 (HPO:0002126) Polymicrogyria 64 / 7739
25
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
26
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
27
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
28
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
29
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
30
 (HPO:0001388) Joint laxity 117 / 7739
31
 (HPO:0000965) Cutis marmorata Frequent [Orphanet] 46 / 7739
32
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
33
 (HPO:0001249) Intellectual disability 1089 / 7739
34
 (HPO:0001263) Global developmental delay 853 / 7739
35
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
36
 (HPO:0000286) Epicanthus 371 / 7739
37
 (HPO:0000316) Hypertelorism 644 / 7739
38
 (HPO:0000319) Smooth philtrum 72 / 7739
39
 (HPO:0000337) Broad forehead 116 / 7739
40
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
41
 (HPO:0000568) Microphthalmia 183 / 7739
42
 (HPO:0001159) Syndactyly 140 / 7739
43
 (HPO:0001250) Seizures 1245 / 7739
44
 (HPO:0001548) Overgrowth 27 / 7739
45
 (HPO:0001629) Ventricular septal defect 316 / 7739
46
 (HPO:0001909) Leukemia 46 / 7739
47
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
48
 (HPO:0002667) Nephroblastoma 30 / 7739
49
 (HPO:0002858) Meningioma 22 / 7739
50
 (HPO:0004481) Progressive macrocephaly 8 / 7739
51
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
52
 (HPO:0009748) Large earlobe 27 / 7739
53
 (HPO:0010442) Polydactyly 69 / 7739
54
 (HPO:0100790) Hernia 9 / 7739
55
 (OMIM) Increased birth length 3 / 7739
56
 (OMIM) Increased birth weight 6 / 7739
57
 (OMIM) Somatic overgrowth, asymmetric 1 / 7739
58
 (OMIM) Hemihyperplasia 1 / 7739
59
 (OMIM) Macrocephaly, progressive in infancy 1 / 7739
60
 (OMIM) Unilateral microphthalmia 1 / 7739
61
 (OMIM) Narrow arched palate 2 / 7739
62
 (OMIM) Thick, loose, doughy skin 1 / 7739
63
 (OMIM) Cutaneous vascular malformations 2 / 7739
64
 (OMIM) Patchy, reticular stains 1 / 7739
65
 (OMIM) Thickened subcutaneous tissue 1 / 7739
66
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
67
 (HPO:0010547) Muscle flaccidity 466 / 7739
68
 (OMIM) MRI shows brain asymmetry 1 / 7739
69
 (OMIM) Large cerebellum, progressive 1 / 7739
70
 (OMIM) Cerebellar tonsil herniation 1 / 7739
71
 (OMIM) Crowding of the posterior fossa 1 / 7739
72
 (OMIM) Cavum Vergae 4 / 7739
73
 (OMIM) Cortical dysgenesis 1 / 7739
74
 (OMIM) Thickened corpus callosum 1 / 7739
75
 (OMIM) Thickened optic nerve sheath 1 / 7739
76
 (OMIM) Dilated venous sinuses 1 / 7739
77
 (OMIM) White matter signal abnormalities in the deep white matter and periventricular regions 1 / 7739
78
 (OMIM) Increased risk of meningioma 1 / 7739
79
 (OMIM) Increased risk of Wilms tumor 2 / 7739
80
 (OMIM) Increased risk of leukemia 3 / 7739
81
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
82
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
83
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
84
 (MedDRA:10025421) Macule Frequent [Orphanet] 55 / 7739
85
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
86
 (HPO:0001428) Somatic mutation 100 / 7739
87
 (HPO:0003745) Sporadic 131 / 7739