|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0012506)
|
Small pituitary gland |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Hyposmia/anosmia |
|
|
|
|
7 / 7739
|
|
8
|
(OMIM)
|
Delayed or absent thelarche |
|
|
|
|
5 / 7739
|
|
9
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
|
10
|
(OMIM)
|
Osteopenia or osteoporosis (in some patients) |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Genu valgus, bilateral (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal pituitary function |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Lack of LH pulsatility |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Low serum testosterone in males |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Low serum estradiol in females |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Low to normal serum gonadotropins |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|