1
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
2
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
3
|
(OMIM)
|
Pubic hair underdeveloped |
|
|
|
|
1 / 7739
|
4
|
(OMIM)
|
Ovarian dysgenesis |
|
|
|
|
7 / 7739
|
5
|
(MedDRA:10063146)
|
Uterine hypoplasia |
|
|
|
|
3 / 7739
|
6
|
(OMIM)
|
Luteinizing hormone levels elevated |
|
|
|
|
1 / 7739
|
7
|
(OMIM)
|
Follicle-stimulating hormone levels elevated |
|
|
|
|
1 / 7739
|
8
|
(OMIM)
|
Estradiol undetectable |
|
|
|
|
1 / 7739
|
9
|
(OMIM)
|
Progesterone undetectable |
|
|
|
|
1 / 7739
|
10
|
(OMIM)
|
Androgen levels normal |
|
|
|
|
1 / 7739
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|