|
1
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000458)
|
Anosmia |
Occasional [HPO:probinson]
|
|
|
|
49 / 7739
|
|
3
|
(HPO:0010632)
|
Total anosmia |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
6
|
(OMIM)
|
Delayed or absent thelarche |
|
|
|
|
5 / 7739
|
|
7
|
(OMIM)
|
Patients have normal pituitary function |
|
|
|
|
4 / 7739
|
|
8
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
|
9
|
(OMIM)
|
Low estradiol levels in females |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Low or normal serum gonadotropins |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|