|
1
|
(HPO:0000482)
|
Microcornea |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
4
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
5
|
(HPO:0200070)
|
Peripheral retinal atrophy |
|
|
|
|
2 / 7739
|
|
6
|
(OMIM)
|
Decreased night vision, childhood-onset |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Decreased peripheral vision, childhood-onset |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Coloboma of the iris, inferior |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Displacement of pupil, inferior (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Cataract, nuclear sclerotic (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Retinal dystrophy, progressive |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Bone spicule pigmentation of retina (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Attenuation of retinal arterioles |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Prominent optic disc with irregular capillaries (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Irregular macular reflex (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Absent foveal reflex (in some patients) |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Scotopic responses reduced or nondetectable on electroretinography |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Photopic responses reduced on electroretinography |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Acne, severe comedogenic |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Follicular keratosis, generalized (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
|
23
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
24
|
(HPO:0040137)
|
Comodogenic acne |
|
|
|
|
1 / 7739
|