|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
19327736
|
IBIS
|
297 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
19327736
|
IBIS
|
67 / 7739
|
|
3
|
(HPO:0000603)
|
Central scotoma |
|
|
19327736
|
IBIS
|
18 / 7739
|
|
4
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0000666)
|
Horizontal nystagmus |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
137 / 7739
|
|
10
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|