|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
19079066
|
IBIS
|
56 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0008197)
|
Absence of pubertal development |
|
|
19079066
|
IBIS
|
2 / 7739
|
|
6
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
7
|
(OMIM)
|
Delayed or absent thelarche |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Patients have normal pituitary function |
|
|
|
|
4 / 7739
|
|
9
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
|
10
|
(OMIM)
|
Low testosterone levels in males |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Low estradiol levels in females |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Low or normal serum gonadotropins |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0030260)
|
Microphallus |
|
|
|
|
6 / 7739
|