|
1
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
5516239
|
IBIS
|
46 / 7739
|
|
2
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
5516239
|
IBIS
|
43 / 7739
|
|
3
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
5516239
|
IBIS
|
40 / 7739
|
|
4
|
(HPO:0001072)
|
Thickened skin |
Occasional [Orphanet]
|
|
20301345
|
IBIS
|
87 / 7739
|
|
5
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
5516239
|
IBIS
|
297 / 7739
|
|
6
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
20301345
|
IBIS
|
63 / 7739
|
|
7
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
1900307
|
IBIS
|
158 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
5516239
|
IBIS
|
576 / 7739
|
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
5516239
|
IBIS
|
22 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
5516239
|
IBIS
|
555 / 7739
|
|
11
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
20301345
|
IBIS
|
84 / 7739
|
|
12
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
20301345
|
IBIS
|
96 / 7739
|
|
13
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Frequent [Orphanet]
|
|
5516239
|
IBIS
|
21 / 7739
|
|
14
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|