1
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
2
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
3
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
4
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
5
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
6
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
7
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
9
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
10
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
11
|
(HPO:0000141)
|
Amenorrhea |
|
|
|
|
16 / 7739
|
12
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
13
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
14
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
15
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
16
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
17
|
(HPO:0000537)
|
Epicanthus inversus |
|
|
|
|
7 / 7739
|
18
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
19
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
20
|
(HPO:0000769)
|
Abnormality of the breast |
|
|
|
|
5 / 7739
|
21
|
(HPO:0000837)
|
Increased circulating gonadotropin level |
|
|
|
|
12 / 7739
|
22
|
(HPO:0000858)
|
Menstrual irregularities |
|
|
|
|
42 / 7739
|
23
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
24
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
25
|
(HPO:0008222)
|
Female infertility |
|
|
|
|
7 / 7739
|
26
|
(OMIM)
|
Characteristic backward head tilt |
|
|
|
|
1 / 7739
|
27
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
28
|
(OMIM)
|
Pronounced convex arch of eyebrows |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Normal breast development |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Scant pubic hair |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Small uterus |
|
|
|
|
4 / 7739
|
32
|
(OMIM)
|
Small atrophic ovaries |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Scant pubic and axillary hair (females) |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Low estrogen and progesterone |
|
|
|
|
1 / 7739
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|