|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0003782)
|
Eunuchoid habitus |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0001399)
|
Hepatic failure |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0000789)
|
Infertility |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
6
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
9
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
|
11
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
13
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
14
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
15
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|