|
1
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
3
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
7
|
(HPO:0006934)
|
Congenital nystagmus |
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0007750)
|
Hypoplasia of the fovea |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0007819)
|
Presenile cataracts |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Subnormal visual acuity |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Peripheral corneal pannus |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|