|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
3
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0000137)
|
Abnormality of the ovary |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
11
|
(HPO:0010464)
|
Streak ovary |
|
|
|
|
8 / 7739
|
|
12
|
(OMIM)
|
Alopecia, partial |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Central scalp alopecia |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Absent gonads |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Germinal cell aplasia |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|