1
|
(HPO:0000036)
|
Abnormality of the penis |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
2
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
3
|
(HPO:0000221)
|
Furrowed tongue |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
4
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
6
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
9
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
10
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
11
|
(HPO:0000853)
|
Goiter |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
12
|
(HPO:0000957)
|
Cafe-au-lait spot |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
13
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
14
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
15
|
(HPO:0001012)
|
Multiple lipomas |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
16
|
(HPO:0001048)
|
Cavernous hemangioma |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
17
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
18
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
19
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
21
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
22
|
(HPO:0002858)
|
Meningioma |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
23
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
26
|
(HPO:0009720)
|
Adenoma sebaceum |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
27
|
(HPO:0009726)
|
Renal neoplasm |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
28
|
(HPO:0010784)
|
Uterine neoplasm |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
29
|
(HPO:0100013)
|
Neoplasm of the breast |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
30
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
|
|
|
|
15 / 7739
|
31
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
32
|
(HPO:0012062)
|
Bone cyst |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
33
|
(HPO:0100780)
|
Conjunctival hamartoma |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
34
|
(HPO:0200008)
|
Intestinal polyposis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
35
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
36
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
37
|
(HPO:0002664)
|
Neoplasm |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
38
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
39
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
40
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
41
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
42
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
43
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
44
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
45
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
46
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
47
|
(MedDRA:10025421)
|
Macule |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
48
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
49
|
(HPO:0010720)
|
Abnormal hair pattern |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
50
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
51
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
52
|
(HPO:0012740)
|
Papilloma |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
53
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
54
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
55
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
56
|
(HPO:0008069)
|
Neoplasm of the skin |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
57
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
58
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
59
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
60
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
61
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
62
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
63
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
64
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
65
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
66
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
|
|
25 / 7739
|
67
|
(HPO:0000854)
|
Thyroid adenoma |
|
|
|
|
6 / 7739
|
68
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
69
|
(HPO:0001249)
|
Intellectual disability |
12% [HPO:skoehler]
|
|
|
|
1089 / 7739
|
70
|
(HPO:0001256)
|
Intellectual disability, mild |
12 % [HPO:skoehler]
|
|
|
|
141 / 7739
|
71
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
72
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
73
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
74
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
75
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
76
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
77
|
(HPO:0004481)
|
Progressive macrocephaly |
|
|
|
|
8 / 7739
|
78
|
(HPO:0006740)
|
Transitional cell carcinoma of the bladder |
|
|
|
|
7 / 7739
|
79
|
(HPO:0010609)
|
Skin tags |
|
|
|
|
12 / 7739
|
80
|
(HPO:0010619)
|
Fibroadenoma of the breast |
|
|
|
|
4 / 7739
|
81
|
(HPO:0012871)
|
Varicocele |
|
|
|
|
4 / 7739
|
82
|
(HPO:0100646)
|
Thyroiditis |
|
|
|
|
11 / 7739
|