Symptom Information: Sort according to HPO 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
6
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
7
 (HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
8
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
9
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
10
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
11
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
13
 (HPO:0002816) Genu recurvatum Very frequent [Orphanet] 30 / 7739
14
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
15
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
16
 (HPO:0002132) Porencephaly Frequent [Orphanet] 18 / 7739
17
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
18
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
19
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
20
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
21
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
22
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
23
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
24
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
25
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
26
 (HPO:0001048) Cavernous hemangioma Very frequent [Orphanet] 28 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
29
 (HPO:0000085) Horseshoe kidney 39 / 7739
30
 (HPO:0000267) Cranial asymmetry 6 / 7739
31
 (HPO:0000589) Coloboma 47 / 7739
32
 (HPO:0000544) External ophthalmoplegia 40 / 7739
33
 (HPO:0000597) Ophthalmoparesis 71 / 7739
34
 (HPO:0000602) Ophthalmoplegia rare [HPO:skoehler] 56 / 7739
35
 (HPO:0000826) Precocious puberty rare [HPO:skoehler] 42 / 7739
36
 (HPO:0100000) Early onset of sexual maturation 9 / 7739
37
 (HPO:0000938) Osteopenia 138 / 7739
38
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
39
 (HPO:0001028) Hemangioma 23 / 7739
40
 (HPO:0001548) Overgrowth 27 / 7739
41
 (HPO:0001596) Alopecia 162 / 7739
42
 (HPO:0001680) Coarctation of aorta 57 / 7739
43
 (HPO:0002671) Basal cell carcinoma 18 / 7739
44
 (HPO:0002751) Kyphoscoliosis 131 / 7739
45
 (HPO:0002757) Recurrent fractures 47 / 7739
46
 (HPO:0003109) Hyperphosphaturia rare [HPO:skoehler] 18 / 7739
47
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
48
 (HPO:0004322) Short stature 1232 / 7739
49
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
50
 (HPO:0007206) Hemimegalencephaly 2 / 7739
51
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
52
 (HPO:0007957) Corneal opacity rare [HPO:skoehler] 84 / 7739
53
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
54
 (HPO:0008064) Ichthyosis 108 / 7739
55
 (HPO:0010815) Nevus sebaceous 2 / 7739
56
 (OMIM) Asymmetric overgrowth 1 / 7739
57
 (OMIM) Lid lipodermoid 1 / 7739
58
 (OMIM) Coloboma of eyelids, iris, and choroid 1 / 7739
59
 (OMIM) Pigmented, malformed teeth 1 / 7739
60
 (MedDRA:10070918) Bone deformity 2 / 7739
61
 (OMIM) Finger abnormalities 1 / 7739
62
 (OMIM) Toe abnormalities 1 / 7739
63
 (OMIM) Linear nevus sebaceous, often in midfacial area 1 / 7739
64
 (OMIM) Lesions follow the lines of Blaschko 1 / 7739
65
 (OMIM) Ichthyosis hystrix 2 / 7739
66
 (OMIM) Nevus unius lateris 1 / 7739
67
 (OMIM) Alopecia within lesion 1 / 7739
68
 (OMIM) Neurologic abnormalities in about 7% 1 / 7739
69
 (OMIM) Hypophosphatemic vitamin D-resistant rickets (in some) 1 / 7739
70
 (OMIM) Syringocystadenoma papilliferum 1 / 7739
71
 (OMIM) Central giant cell granuloma 1 / 7739
72
 (OMIM) Trichoblastoma 1 / 7739
73
 (OMIM) Phosphaturia may disappear after a long period of time 1 / 7739
74
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
75
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
76
 (HPO:0001167) Abnormality of finger 29 / 7739
77
 (HPO:0001442) Somatic mosaicism 7 / 7739
78
 (HPO:0001780) Abnormality of toe 5 / 7739
79
 (HPO:0003745) Sporadic 131 / 7739
80
 (HPO:0004912) Hypophosphatemic rickets 13 / 7739
81
 (HPO:0011073) Abnormality of dental color 24 / 7739