|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0000048)
|
Bifid scrotum |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
|
5
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
6
|
(HPO:0010788)
|
Testicular neoplasm |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0000027)
|
Azoospermia |
|
|
|
|
28 / 7739
|
|
10
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
11
|
(HPO:0000037)
|
Male pseudohermaphroditism |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
14
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
15
|
(OMIM)
|
Absent vas deferens |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Testis biopsy shows Leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
High testosterone |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Partial deficiency of cytoplasmic DHT-binding |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
High FSH secondary to androgen insensitivity |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal 46,XY karyotype |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Oligospermia or azoospermia |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
23
|
(HPO:0012873)
|
Absent vas deferens |
|
|
|
|
1 / 7739
|