|
1
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
3
|
(MedDRA:10071084)
|
Follicle-stimulating hormone deficiency |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0011969)
|
Elevated luteinizing hormone |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
6
|
(HPO:0000789)
|
Infertility |
|
|
|
|
74 / 7739
|
|
7
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
8
|
(HPO:0003199)
|
Decreased muscle mass |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|