1
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
2
|
(HPO:0006740)
|
Transitional cell carcinoma of the bladder |
|
|
|
|
7 / 7739
|
3
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
5
|
(HPO:0000221)
|
Furrowed tongue |
|
|
|
|
24 / 7739
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
7
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
8
|
(HPO:0004481)
|
Progressive macrocephaly |
|
|
|
|
8 / 7739
|
9
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
10
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
11
|
(HPO:0001102)
|
Angioid streaks of the retina |
|
|
|
|
11 / 7739
|
12
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
13
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
14
|
(HPO:0001256)
|
Intellectual disability, mild |
12 % [HPO:skoehler]
|
|
|
|
141 / 7739
|
15
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
17
|
(HPO:0001249)
|
Intellectual disability |
12% [HPO:skoehler]
|
|
|
|
1089 / 7739
|
18
|
(HPO:0002858)
|
Meningioma |
|
|
|
|
22 / 7739
|
19
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
20
|
(HPO:0010619)
|
Fibroadenoma of the breast |
|
|
|
|
4 / 7739
|
21
|
(HPO:0000771)
|
Gynecomastia |
|
|
|
|
53 / 7739
|
22
|
(HPO:0100646)
|
Thyroiditis |
|
|
|
|
11 / 7739
|
23
|
(HPO:0000836)
|
Hyperthyroidism |
|
|
|
|
25 / 7739
|
24
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
25
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
26
|
(HPO:0000854)
|
Thyroid adenoma |
|
|
|
|
6 / 7739
|
27
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
28
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
29
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
30
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
31
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
32
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
33
|
(HPO:0010609)
|
Skin tags |
|
|
|
|
12 / 7739
|
34
|
(HPO:0001031)
|
Subcutaneous lipoma |
|
|
|
|
112 / 7739
|
35
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
37
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
38
|
(HPO:0012871)
|
Varicocele |
|
|
|
|
4 / 7739
|