|
1
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000869)
|
Secondary amenorrhea |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0000137)
|
Abnormality of the ovary |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
11
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
12
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|