|
1
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
6542750
|
IBIS
|
158 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
6542750
|
IBIS
|
576 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
8288253
|
IBIS
|
524 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
6542750
|
IBIS
|
297 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
6542750
|
IBIS
|
555 / 7739
|
|
6
|
(HPO:0001022)
|
Albinism |
|
|
6542750
|
IBIS
|
43 / 7739
|
|
7
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
6542750
|
IBIS
|
40 / 7739
|
|
8
|
(HPO:0001361)
|
Nystagmus-induced head nodding |
|
|
6542750
|
IBIS
|
2 / 7739
|
|
9
|
(HPO:0005592)
|
Giant melanosomes in melanocytes |
|
|
6542750
|
IBIS
|
4 / 7739
|
|
10
|
(HPO:0007680)
|
Depigmented fundus |
|
|
6542750
|
IBIS
|
2 / 7739
|
|
11
|
(HPO:0008615)
|
Adult onset sensorineural hearing impairment |
|
|
8288253
|
IBIS
|
4 / 7739
|
|
12
|
(OMIM)
|
Albino pupillary reflex |
|
|
6542750
|
IBIS
|
2 / 7739
|
|
13
|
(OMIM)
|
Prominent choroidal vessels |
|
|
6542750
|
IBIS
|
2 / 7739
|
|
14
|
(OMIM)
|
Head nodding |
|
|
6542750
|
IBIS
|
5 / 7739
|
|
15
|
(OMIM)
|
Macromelanosomes on EM |
|
|
6542750
|
IBIS
|
2 / 7739
|