|
1
|
(HPO:0000543)
|
Optic disc pallor |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
3
|
(OMIM)
|
Macular atrophy |
|
|
|
|
5 / 7739
|
|
4
|
(OMIM)
|
Attenuation of retinal vessels |
|
|
|
|
5 / 7739
|
|
5
|
(OMIM)
|
Waxy optic disc (in some patients) |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Pigment clumping |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Bone spicule-like pigmentation |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Early onset of decreased visual acuity: Nonrecordable cone pattern on electroretinogram |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Nonrecordable or severely reduced rod pattern on electroretinogram |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
13
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|
|
14
|
(HPO:0007401)
|
Macular atrophy |
|
|
|
|
14 / 7739
|