|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000458)
|
Anosmia |
rare [HPO:skoehler]
|
|
|
|
49 / 7739
|
|
4
|
(HPO:0010632)
|
Total anosmia |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0008734)
|
Decreased testicular size |
rare [HPO:skoehler]
|
|
|
|
105 / 7739
|
|
7
|
(OMIM)
|
Delayed or absent thelarche |
|
|
|
|
5 / 7739
|
|
8
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
|
9
|
(OMIM)
|
Patients have normal pituitary function |
|
|
|
|
4 / 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:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|