Symptom Information: Sort according to HPO 

1
(HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
(HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
3
(HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
4
(HPO:0100730) Bronchogenic cyst Frequent [Orphanet] 5 / 7739
5
(HPO:0004684) Talipes valgus Occasional [Orphanet] 28 / 7739
6
(HPO:0001528) Hemihypertrophy 13 / 7739
7
(HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
8
(HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
9
(HPO:0010788) Testicular neoplasm Occasional [Orphanet] 10 / 7739
10
(HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
11
(HPO:0100615) Ovarian neoplasm Occasional [Orphanet] 25 / 7739
12
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
13
(HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
14
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
15
(HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
16
(HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
17
(HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
18
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
19
(HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
20
(HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
21
(HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
22
(HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
23
(HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
24
(HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
25
(HPO:0004420) Arterial thrombosis Occasional [Orphanet] 20 / 7739
26
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
27
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
(HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
29
(HPO:0003764) Nevus 17 / 7739
30
(HPO:0010516) Thymus hyperplasia Occasional [Orphanet] 4 / 7739
31
(HPO:0001012) Multiple lipomas Very frequent [Orphanet] 43 / 7739
32
(HPO:0012032) Lipoma 10 / 7739
33
(HPO:0100521) Neoplasm of the thymus Occasional [Orphanet] 7 / 7739
34
(HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
35
(HPO:0009594) Retinal hamartoma Occasional [Orphanet] 5 / 7739
36
(HPO:0000557) Buphthalmos Occasional [Orphanet] 16 / 7739
37
(HPO:0001743) Abnormality of the spleen Occasional [Orphanet] 37 / 7739
38
(HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
39
(HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
40
(HPO:0100761) Visceral angiomatosis Frequent [Orphanet] 21 / 7739
41
(HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
42
(HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
43
(HPO:0004490) Calvarial hyperostosis 11 / 7739
44
(HPO:0005465) Facial hyperostosis 4 / 7739
45
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
46
(HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
47
(HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
48
(HPO:0100764) Lymphangioma Very frequent [Orphanet] 11 / 7739
49
(HPO:0100780) Conjunctival hamartoma Occasional [Orphanet] 4 / 7739
50
(HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
51
(HPO:0000464) Abnormality of the neck Occasional [Orphanet] 31 / 7739
52
(HPO:0001822) Hallux valgus Occasional [Orphanet] 70 / 7739
53
(HPO:0100746) Macrodactyly of finger Very frequent [Orphanet] 5 / 7739
54
(HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
55
(HPO:0100526) Neoplasm of the lung Occasional [Orphanet] 26 / 7739
56
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
57
(HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
58
(HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
59
(HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
60
(HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
61
(HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
62
(HPO:0002858) Meningioma Occasional [Orphanet] 22 / 7739
63
(HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
64
(HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
65
(HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
66
(HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
67
(HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
68
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
69
(HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
70
(HPO:0100026) Arteriovenous malformation Very frequent [Orphanet] 38 / 7739
71
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
72
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
73
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
74
(HPO:0002204) Pulmonary embolism Frequent [Orphanet] 26 / 7739
75
(HPO:0100559) Lower limb asymmetry Very frequent [Orphanet] 30 / 7739
76
(HPO:0100774) Hyperostosis Frequent [Orphanet] 17 / 7739
77
(HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
78
(HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
79
(HPO:0001004) Lymphedema Frequent [Orphanet] 62 / 7739
80
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
81
(HPO:0010497) Sirenomelia Occasional [Orphanet] 6 / 7739
82
(HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
83
(HPO:0002625) Deep venous thrombosis 10 / 7739
84
(HPO:0001555) Asymmetry of the thorax Very frequent [Orphanet] 15 / 7739
85
(HPO:0000953) Hyperpigmentation of the skin Occasional [Orphanet] 75 / 7739
86
(HPO:0001028) Hemangioma 23 / 7739
87
(HPO:0001140) Epibulbar dermoid 11 / 7739
88
(HPO:0002176) Spinal cord compression 15 / 7739
89
(HPO:0002342) Intellectual disability, moderate 37 / 7739
90
(HPO:0002751) Kyphoscoliosis 131 / 7739
91
(HPO:0003416) Spinal canal stenosis 28 / 7739
92
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
93
(HPO:0004472) Mandibular hyperostosis 1 / 7739
94
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
95
(HPO:0007403) Hypertrophy of skin of soles 1 / 7739
96
(HPO:0007483) Depigmentation/hyperpigmentation of skin 1 / 7739
97
(HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
98
(HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
99
(OMIM) Generalized, unilateral or localized overgrowth of any tissue 1 / 7739
100
(OMIM) Hyperostoses of calvaria, facial bones, and mandible 1 / 7739
101
(HPO:0010816) Epidermal nevus 2 / 7739
102
(OMIM) Depigmentation/hyperpigmentation 1 / 7739
103
(OMIM) Hemangiomata, especially thorax and upper abdomen 1 / 7739
104
(MedDRA:10048409) Brain malformation 2 / 7739
105
(OMIM) Spinal cord compression by tumor infiltration 1 / 7739
106
(OMIM) Spinal stenosis from angular kyphoscoliosis 1 / 7739
107
(HPO:0002817) Abnormality of the upper limb Very frequent [Orphanet] 25 / 7739
108
(HPO:0100649) Neoplasm of the oral cavity Frequent [Orphanet] 20 / 7739
109
(HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
110
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
111
(HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
112
(HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
113
(HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
114
(HPO:0012581) Solitary renal cyst Occasional [Orphanet] 7 / 7739
115
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
116
(HPO:0012182) Oropharyngeal squamous cell carcinoma Occasional [Orphanet] 4 / 7739
117
(HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
118
(HPO:0000194) Open mouth 70 / 7739
119
(HPO:0002753) Thin bony cortex 16 / 7739
120
(HPO:0003745) Sporadic 131 / 7739
121
(HPO:0012721) Venous malformation 3 / 7739