|
1
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000642)
|
Red-green dyschromatopsia |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
9
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0007803)
|
Monochromacy |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Bull's eye macular lesion |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Progressive central vision toss |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Dark brown discoloration |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|