Symptom Information: Sort according to HPO 

1
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
2
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
4
 (HPO:0100646) Thyroiditis Occasional [Orphanet] 11 / 7739
5
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
6
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
7
 (HPO:0010547) Muscle flaccidity 466 / 7739
8
 (HPO:0010784) Uterine neoplasm Occasional [Orphanet] 13 / 7739
9
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
10
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
11
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
12
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
13
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
14
 (HPO:0200008) Intestinal polyposis Very frequent [Orphanet] 23 / 7739
15
 (HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
16
 (HPO:0012032) Lipoma 10 / 7739
17
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
18
 (HPO:0100013) Neoplasm of the breast Very frequent [Orphanet] 18 / 7739
19
 (HPO:0100761) Visceral angiomatosis Very frequent [Orphanet] 21 / 7739
20
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
21
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
22
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
23
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
24
 (HPO:0001724) Aortic dilatation Occasional [Orphanet] 24 / 7739
25
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
26
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
27
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
28
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
29
 (HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
30
 (HPO:0000218) High palate 356 / 7739
31
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
32
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
33
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
34
 (HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
35
 (HPO:0100641) Neoplasm of the adrenal cortex Occasional [Orphanet] 3 / 7739
36
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
37
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
38
 (HPO:0002170) Intracranial hemorrhage Occasional [Orphanet] 40 / 7739
39
 (HPO:0001249) Intellectual disability 1089 / 7739
40
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
41
 (HPO:0000040) Long penis 17 / 7739
42
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
43
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
44
 (HPO:0000538) Pseudopapilledema 4 / 7739
45
 (HPO:0000646) Amblyopia 42 / 7739
46
 (HPO:0000750) Delayed speech and language development 197 / 7739
47
 (HPO:0000872) Hashimoto thyroiditis 5 / 7739
48
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
49
 (HPO:0001014) Angiokeratoma 5 / 7739
50
 (HPO:0001028) Hemangioma 23 / 7739
51
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
52
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
53
 (HPO:0002167) Neurological speech impairment 308 / 7739
54
 (HPO:0002194) Delayed gross motor development 37 / 7739
55
 (HPO:0002558) Supernumerary nipple 40 / 7739
56
 (HPO:0002573) Hematochezia 18 / 7739
57
 (HPO:0002576) Intussusception 10 / 7739
58
 (HPO:0003517) Birth length greater than 97th percentile 4 / 7739
59
 (HPO:0004099) Macrodactyly 5 / 7739
60
 (HPO:0004390) Hamartomatous polyposis 9 / 7739
61
 (HPO:0007074) Thick corpus callosum 5 / 7739
62
 (HPO:0007873) Abnormally prominent line of Schwalbe 4 / 7739
63
 (HPO:0008897) Postnatal growth retardation 113 / 7739
64
 (HPO:0100031) Neoplasm of the thyroid gland Occasional [Orphanet] 15 / 7739
65
 (OMIM) Normal adult height 2 / 7739
66
 (OMIM) Birthweight greater than 4 kg 1 / 7739
67
 (OMIM) Prominent corneal nerves 2 / 7739
68
 (OMIM) Tongue polyps 1 / 7739
69
 (OMIM) Ileal hamartomatous polyps 1 / 7739
70
 (OMIM) Colonic hamartomatous polyps 1 / 7739
71
 (OMIM) Enlarged testis 1 / 7739
72
 (OMIM) Tan macules on glans penis and penile shaft 1 / 7739
73
 (HPO:0001048) Cavernous hemangioma Very frequent [Orphanet] 28 / 7739
74
 (OMIM) Lipid storage myopathy 4 / 7739
75
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
76
 (OMIM) Mental retardation, mild to severe 14 / 7739
77
 (OMIM) Thyroid follicular cell tumor 1 / 7739
78
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
79
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
80
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
81
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
82
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
83
 (HPO:0000036) Abnormality of the penis Very frequent [Orphanet] 8 / 7739
84
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
85
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
86
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
87
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
88
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
89
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
90
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
91
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
92
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
93
 (MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
94
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
95
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
96
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
97
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
98
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
99
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
100
 (HPO:0003621) Juvenile onset 105 / 7739