|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
23364476
|
IBIS
|
297 / 7739
|
|
2
|
(HPO:0000613)
|
Photophobia |
|
|
23364476
|
IBIS
|
158 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
23364476
|
IBIS
|
555 / 7739
|
|
4
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
23364476
|
IBIS
|
89 / 7739
|
|
5
|
(OMIM)
|
Transparent iris |
|
|
23364476
|
IBIS
|
1 / 7739
|
|
6
|
(OMIM)
|
Nystagmus, mild |
|
|
23364476
|
IBIS
|
2 / 7739
|
|
7
|
(OMIM)
|
Mild photophobia |
|
|
23364476
|
IBIS
|
3 / 7739
|
|
8
|
(OMIM)
|
Hypopigmented and underdeveloped macula |
|
|
23364476
|
IBIS
|
1 / 7739
|
|
9
|
(OMIM)
|
Absence of central fovea of macula on optical coherence tomography |
|
|
23364476
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Lighter skin color |
|
|
23364476
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Fewer mature melanosomes in melanocytes |
|
|
23364476
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
23364476
|
IBIS
|
2538 / 7739
|
|
13
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
23364476
|
IBIS
|
100 / 7739
|