|
1
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
20301683
|
IBIS
|
158 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
14722913
|
IBIS
|
46 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
20301683
|
IBIS
|
576 / 7739
|
|
4
|
(HPO:0001107)
|
Ocular albinism |
Frequent [Orphanet]
|
|
14722913
|
IBIS
|
40 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
14722913
|
IBIS
|
266 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
14722913
|
IBIS
|
297 / 7739
|
|
7
|
(HPO:0001104)
|
Macular hypoplasia |
|
|
14722913
|
IBIS
|
9 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
14961451
|
IBIS
|
555 / 7739
|
|
9
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
11574907
|
IBIS
|
38 / 7739
|
|
10
|
(HPO:0000635)
|
Blue irides |
|
|
14961451
|
IBIS
|
25 / 7739
|
|
11
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
11574907
|
IBIS
|
14 / 7739
|
|
12
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
14722913
|
IBIS
|
84 / 7739
|
|
13
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Occasional [Orphanet]
|
|
14722913
|
IBIS
|
21 / 7739
|
|
14
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
14722913
|
IBIS
|
187 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
14961451
|
IBIS
|
2538 / 7739
|
|
16
|
(HPO:0001022)
|
Albinism |
|
|
14961451
|
IBIS
|
43 / 7739
|