|
1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
19610097
|
IBIS
|
272 / 7739
|
|
2
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
19610097
|
IBIS
|
40 / 7739
|
|
4
|
(HPO:0000483)
|
Astigmatism |
Very frequent [Orphanet]
|
|
19610097
|
IBIS
|
67 / 7739
|
|
5
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
19610097
|
IBIS
|
297 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
19610097
|
IBIS
|
286 / 7739
|
|
7
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
19610097
|
IBIS
|
158 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
1951438
|
IBIS
|
555 / 7739
|
|
11
|
(HPO:0001361)
|
Nystagmus-induced head nodding |
|
|
19610097
|
IBIS
|
2 / 7739
|
|
12
|
(HPO:0005592)
|
Giant melanosomes in melanocytes |
|
|
11520764
|
IBIS
|
4 / 7739
|
|
13
|
(HPO:0007680)
|
Depigmented fundus |
|
|
19610097
|
IBIS
|
2 / 7739
|
|
14
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
15
|
(OMIM)
|
Albino pupillary reflex |
|
|
14467629
|
IBIS
|
2 / 7739
|
|
16
|
(OMIM)
|
Prominent choroidal vessels |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Frequent [Orphanet]
|
|
19610097
|
IBIS
|
21 / 7739
|