|
1
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0100779)
|
Urogenital sinus anomaly |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
3
|
(HPO:0000062)
|
Ambiguous genitalia |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
4
|
(HPO:0000048)
|
Bifid scrotum |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
5
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
6
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0000033)
|
Ambiguous genitalia, male |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0000051)
|
Perineal hypospadias |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
15
|
(MedDRA:10037122)
|
Pseudohermaphroditism |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Blind perineal pouch resembling vagina |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Wolffian differentiation |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
No Mullerian structures |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Cryptorchid testes |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Small prostate |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Scanty pubertal beard |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Male pubertal voice change |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Masculinization at puberty |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
No breast development or menstruation at puberty |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Plasma dihydrotestosterone (DHT) is decreased |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Defective DHT formation |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Plasma testosterone is normal or increased |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
5-alpha-reductase-2 enzyme deficiency |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
30
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|