|
1
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
4
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
5
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0000795)
|
Abnormality of the urethra |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
8
|
(OMIM)
|
Female-appearing genitalia at birth |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Inguinal testes |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Normal virilization at puberty |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
17-ketosteroid reductase defect |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Thyroid dyshormogenesis |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Abnormally high delta(4)-A to T ratio in plasma |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
46,XY karyotype |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
16
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|