Symptom Information: Sort according to HPO 

1
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
2
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
3
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
4
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
5
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
6
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
7
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
8
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
10
 (HPO:0002797) Osteolysis Frequent [Orphanet] 68 / 7739
11
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
12
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
13
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
14
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
15
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
16
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
17
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
18
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
19
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
20
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
21
 (HPO:0001680) Coarctation of aorta 57 / 7739
22
 (HPO:0005113) Dilatation of the aortic arch 12 / 7739
23
 (HPO:0012062) Bone cyst Frequent [Orphanet] 19 / 7739
24
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
25
 (HPO:0012032) Lipoma 10 / 7739
26
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
27
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
30
 (HPO:0100761) Visceral angiomatosis Frequent [Orphanet] 21 / 7739
31
 (HPO:0000028) Cryptorchidism 347 / 7739
32
 (HPO:0000125) Pelvic kidney 10 / 7739
33
 (HPO:0000126) Hydronephrosis 119 / 7739
34
 (HPO:0000238) Hydrocephalus 278 / 7739
35
 (HPO:0000568) Microphthalmia 183 / 7739
36
 (HPO:0000593) Abnormality of the anterior chamber 15 / 7739
37
 (HPO:0000625) Cleft eyelid 31 / 7739
38
 (HPO:0000647) Sclerocornea 25 / 7739
39
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
40
 (HPO:0001140) Epibulbar dermoid 11 / 7739
41
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
42
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
43
 (HPO:0001631) Atria septal defect 274 / 7739
44
 (HPO:0001682) Subaortic stenosis 17 / 7739
45
 (HPO:0001702) Abnormality of the tricuspid valve Frequent [Orphanet] 32 / 7739
46
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
47
 (HPO:0002539) Cortical dysplasia 19 / 7739
48
 (HPO:0004969) Peripheral pulmonary artery stenosis 9 / 7739
49
 (HPO:0007546) Linear hyperpigmentation 2 / 7739
50
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
51
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
52
 (HPO:0100251) Lipomas of the central neryous system 1 / 7739
53
 (HPO:0100702) Arachnoid cyst 15 / 7739
54
 (OMIM) Ear abnormalities 1 / 7739
55
 (OMIM) Hypertrophic conjunctivae 1 / 7739
56
 (OMIM) Small pupil 4 / 7739
57
 (OMIM) Absent macular reflex 1 / 7739
58
 (OMIM) Short/abnormal palpebral fissure 1 / 7739
59
 (OMIM) Irregular eyebrows 1 / 7739
60
 (OMIM) Hypoplasia thoracic aorta 1 / 7739
61
 (OMIM) Bicommissural aortic valve 5 / 7739
62
 (OMIM) Abnormal cerebral vessels 1 / 7739
63
 (OMIM) Meningeal angiomatosis 1 / 7739
64
 (OMIM) Turricephalic skull 1 / 7739
65
 (OMIM) Spinal lipoma 1 / 7739
66
 (OMIM) Leg asymmetry 1 / 7739
67
 (OMIM) Skeletal cysts 1 / 7739
68
 (OMIM) Focal scalp defects with alopecia 1 / 7739
69
 (OMIM) Focal skin hypoplasia in face 1 / 7739
70
 (OMIM) Small nodular skin-tags 1 / 7739
71
 (OMIM) Subcutaneous lipomatous tissue 1 / 7739
72
 (MedDRA:10072288) Intracranial lipoma 1 / 7739
73
 (OMIM) Atrophy, thin hemisphere 1 / 7739
74
 (HPO:0002132) Porencephaly 18 / 7739
75
 (HPO:0006956) Dilation of lateral ventricles 13 / 7739
76
 (OMIM) Calcifications 3 / 7739
77
 (OMIM) Enlarged cerebellar cistern 1 / 7739
78
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
79
 (OMIM) Adipose tissue in subarachnoid space 1 / 7739
80
 (OMIM) Defective opercularization 1 / 7739
81
 (OMIM) Extensive melanosis of leptomeninges, amygdala, and cerebellar hemispheres 1 / 7739
82
 (OMIM) Epilepsy, refractory (onset in adolescence or young adulthood) 3 / 7739
83
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
84
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
85
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
86
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739