|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0000526)
|
Aniridia |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
9
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0007750)
|
Hypoplasia of the fovea |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|