1
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
2
|
(HPO:0100555)
|
Asymmetric growth |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
3
|
(HPO:0000541)
|
Retinal detachment |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
6
|
(HPO:0100559)
|
Lower limb asymmetry |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
7
|
(HPO:0009721)
|
Shagreen patch |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
8
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
9
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
10
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
11
|
(HPO:0001140)
|
Epibulbar dermoid |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
12
|
(HPO:0001012)
|
Multiple lipomas |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
13
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
14
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
15
|
(HPO:0002816)
|
Genu recurvatum |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
16
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
17
|
(HPO:0001334)
|
Communicating hydrocephalus |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
18
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
19
|
(HPO:0000828)
|
Abnormality of the parathyroid gland |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
20
|
(HPO:0001100)
|
Heterochromia iridis |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
21
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
22
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
23
|
(HPO:0100673)
|
Vaginal hydrocele |
|
|
|
|
8 / 7739
|
24
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
25
|
(HPO:0000147)
|
Polycystic ovaries |
|
|
|
|
18 / 7739
|
26
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
27
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
28
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
29
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
30
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
31
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
32
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
33
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
34
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
|
|
25 / 7739
|
35
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
36
|
(HPO:0000854)
|
Thyroid adenoma |
|
|
|
|
6 / 7739
|
37
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
38
|
(HPO:0001031)
|
Subcutaneous lipoma |
|
|
|
|
112 / 7739
|
39
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
40
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
41
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
42
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
43
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
44
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
45
|
(HPO:0002858)
|
Meningioma |
|
|
|
|
22 / 7739
|
46
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
47
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
48
|
(HPO:0004481)
|
Progressive macrocephaly |
|
|
|
|
8 / 7739
|
49
|
(HPO:0006740)
|
Transitional cell carcinoma of the bladder |
|
|
|
|
7 / 7739
|
50
|
(HPO:0100646)
|
Thyroiditis |
|
|
|
|
11 / 7739
|
51
|
(OMIM)
|
Obesity, increased risk of |
|
|
|
|
2 / 7739
|
52
|
(OMIM)
|
'Birdlike' facies (uncommon) |
|
|
|
|
2 / 7739
|
53
|
(MedDRA:10068322)
|
Oral papilloma |
|
|
|
|
2 / 7739
|
54
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
55
|
(OMIM)
|
Intracranial developmental venous anomalies |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
Virginal hyperplasia |
|
|
|
|
2 / 7739
|
57
|
(MedDRA:10016621)
|
Fibrocystic breast disease |
|
|
|
|
2 / 7739
|
58
|
(OMIM)
|
Gynecomastia in males |
|
|
|
|
2 / 7739
|
59
|
(OMIM)
|
Breast fibroadenomas |
|
|
|
|
2 / 7739
|
60
|
(HPO:0100677)
|
Vulval varicose vein |
|
|
|
|
3 / 7739
|
61
|
(MedDRA:10046900)
|
Vaginal cyst |
|
|
|
|
2 / 7739
|
62
|
(OMIM)
|
Vulvar cysts |
|
|
|
|
2 / 7739
|
63
|
(MedDRA:10024184)
|
Leiomyoma |
|
|
|
|
2 / 7739
|
64
|
(OMIM)
|
Multiple facial papules |
|
|
|
|
2 / 7739
|
65
|
(OMIM)
|
Acral keratoses |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Multiple skin tags |
|
|
|
|
2 / 7739
|
67
|
(OMIM)
|
Facial trichilemmomas |
|
|
|
|
2 / 7739
|
68
|
(OMIM)
|
Lhermitte-Duclos disease |
|
|
|
|
2 / 7739
|
69
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
70
|
(OMIM)
|
Psychomotor delay, mild to moderate |
|
|
|
|
2 / 7739
|
71
|
(OMIM)
|
Cerebellar gangliocytoma manifesting as seizure and tremor |
|
|
|
|
2 / 7739
|
72
|
(OMIM)
|
Enhanced insulin sensitivity |
|
|
|
|
2 / 7739
|
73
|
(HPO:0100615)
|
Ovarian neoplasm |
|
|
|
|
25 / 7739
|
74
|
(OMIM)
|
Cervical carcinoma |
|
|
|
|
2 / 7739
|
75
|
(OMIM)
|
Uterine adenocarcinoma |
|
|
|
|
2 / 7739
|
76
|
(MedDRA:10066474)
|
Thyroid cancer |
|
|
|
|
6 / 7739
|
77
|
(OMIM)
|
Mucosal neuromas |
|
|
|
|
2 / 7739
|
78
|
(HPO:0200008)
|
Intestinal polyposis |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
79
|
(HPO:0100774)
|
Hyperostosis |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
80
|
(HPO:0100730)
|
Bronchogenic cyst |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
81
|
(HPO:0002652)
|
Skeletal dysplasia |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
82
|
(HPO:0010516)
|
Thymus hyperplasia |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
83
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
84
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
85
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
86
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
87
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
88
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
89
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|