|
1
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
3
|
(HPO:0001141)
|
Severe visual impairment |
|
|
|
|
11 / 7739
|
|
4
|
(HPO:0007803)
|
Monochromacy |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0007811)
|
Horizontal pendular nystagmus |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
8
|
(OMIM)
|
Colorblindness |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Congenital complete achromatopsia |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Decreased foveolar thickness |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0011516)
|
Achromatopsia |
|
|
|
|
5 / 7739
|