|
1
|
(HPO:0000823)
|
Delayed puberty |
Very frequent [IBIS]
|
90% (n=29)
|
18410658
|
IBIS
|
65 / 7739
|
|
2
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
13250193
|
IBIS
|
25 / 7739
|
|
3
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
18410658
|
IBIS
|
41 / 7739
|
|
4
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25314337
|
IBIS
|
156 / 7739
|
|
5
|
(HPO:0000133)
|
Gonadal dysgenesis |
Very frequent [IBIS]
|
|
26689524
|
IBIS
|
21 / 7739
|
|
6
|
(HPO:0012245)
|
Sex reversal |
Very frequent [IBIS]
|
|
13250193
|
IBIS
|
13 / 7739
|
|
7
|
(HPO:0000786)
|
Primary amenorrhea |
Very frequent [IBIS]
|
|
25927242
|
IBIS
|
61 / 7739
|
|
8
|
(HPO:0000013)
|
Hypoplasia of the uterus |
Very frequent [IBIS]
|
|
18410658
|
IBIS
|
21 / 7739
|
|
9
|
(HPO:0010468)
|
Aplasia/Hypoplasia of the testes |
Very frequent [IBIS]
|
|
18410658
|
IBIS
|
1 / 7739
|
|
10
|
(HPO:0000938)
|
Osteopenia |
Frequent [IBIS]
|
60% (n=20)
|
18410658
|
IBIS
|
138 / 7739
|
|
11
|
(HPO:0010464)
|
Streak ovary |
Frequent [IBIS]
|
54% (n=22)
|
18410658
|
IBIS
|
8 / 7739
|
|
12
|
(HPO:0000098)
|
Tall stature |
Frequent [IBIS]
|
|
25314337
|
IBIS
|
74 / 7739
|
|
13
|
(HPO:0000837)
|
Increased circulating gonadotropin level |
Frequent [IBIS]
|
|
25314337
|
IBIS
|
12 / 7739
|
|
14
|
(HPO:0100621)
|
Dysgerminoma |
Occasional [IBIS]
|
32% (n=22)
|
18410658
|
IBIS
|
3 / 7739
|
|
15
|
(HPO:0003187)
|
Breast hypoplasia |
Occasional [IBIS]
|
17% (n=29)
|
18410658
|
IBIS
|
17 / 7739
|
|
16
|
(HPO:0000150)
|
Gonadoblastoma |
Occasional [IBIS]
|
14% (n=22)
|
18410658
|
IBIS
|
8 / 7739
|
|
17
|
(HPO:0000763)
|
Sensory neuropathy |
Rare [IBIS]
|
|
25927242
|
IBIS
|
78 / 7739
|
|
18
|
(HPO:0002225)
|
Sparse pubic hair |
|
|
25927242
|
IBIS
|
76 / 7739
|
|
19
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
25927242
|
IBIS
|
48 / 7739
|
|
20
|
(HPO:0012673)
|
Aplasia of the upper vagina |
|
|
25927242
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0030008)
|
Cervical agenesis |
|
|
25927242
|
IBIS
|
1 / 7739
|
|
22
|
(HPO:0000151)
|
Aplasia of the uterus |
|
|
25927242
|
IBIS
|
12 / 7739
|
|
23
|
(HPO:0010789)
|
Abnormality of the Leydig cells |
|
|
25927242
|
IBIS
|
1 / 7739
|
|
24
|
(HPO:0100617)
|
Testicular seminoma |
|
|
25927242
|
IBIS
|
3 / 7739
|
|
25
|
(HPO:0003782)
|
Eunuchoid habitus |
|
|
13250193
|
IBIS
|
8 / 7739
|
|
26
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
22071891
|
IBIS
|
10 / 7739
|