|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
18449927
|
IBIS
|
105 / 7739
|
|
2
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
687204
|
IBIS
|
158 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
687204
|
IBIS
|
576 / 7739
|
|
4
|
(HPO:0002861)
|
Melanoma |
Occasional [Orphanet]
|
|
14709592
|
IBIS
|
18 / 7739
|
|
5
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
8302318
|
IBIS
|
40 / 7739
|
|
6
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
20301410
|
IBIS
|
22 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
687204
|
IBIS
|
297 / 7739
|
|
8
|
(HPO:0005599)
|
Hypopigmentation of hair |
Frequent [Orphanet]
|
|
20301410
|
IBIS
|
38 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
8302318
|
IBIS
|
555 / 7739
|
|
10
|
(HPO:0000635)
|
Blue irides |
|
|
18680187
|
IBIS
|
25 / 7739
|
|
11
|
(HPO:0002297)
|
Red hair |
|
|
18680187
|
IBIS
|
9 / 7739
|
|
12
|
(HPO:0007603)
|
Freckles in sun-exposed areas |
|
|
20301410
|
IBIS
|
3 / 7739
|
|
13
|
(HPO:0007750)
|
Hypoplasia of the fovea |
|
|
687204
|
IBIS
|
11 / 7739
|
|
14
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
8302318
|
IBIS
|
14 / 7739
|
|
15
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
20301410
|
IBIS
|
84 / 7739
|
|
16
|
(OMIM)
|
Translucent irides |
|
|
687204
|
IBIS
|
3 / 7739
|
|
17
|
(OMIM)
|
Irides blue-gray to light brown |
|
|
20301410
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Choroidal vessels visible |
|
|
20301410
|
IBIS
|
2 / 7739
|
|
19
|
(OMIM)
|
High refractive errors (hyperopia, myopia, with-the-rule astigmatism) |
|
|
20301410
|
IBIS
|
2 / 7739
|
|
20
|
(OMIM)
|
Misrouting of the optic nerves at the chiasm |
|
|
10503922
|
IBIS
|
2 / 7739
|
|
21
|
(OMIM)
|
Absent stereopsis due to anomalous decussation at the optic chiasm |
|
|
3148727
|
IBIS
|
2 / 7739
|
|
22
|
(OMIM)
|
White at birth |
|
|
20301410
|
IBIS
|
1 / 7739
|
|
23
|
(OMIM)
|
White to golden blonde or red hair |
|
|
12876664
|
IBIS
|
1 / 7739
|
|
24
|
(OMIM)
|
Hair darkens with age |
|
|
8302318
|
IBIS
|
1 / 7739
|
|
25
|
(OMIM)
|
'Yellow' hair occurs in individuals of African descent |
|
|
20301410
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Hair bulbs will pigment when incubated with tyrosine |
|
|
20301410
|
IBIS
|
1 / 7739
|
|
27
|
(HPO:0001022)
|
Albinism |
|
|
18680187
|
IBIS
|
43 / 7739
|
|
28
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
687204
|
IBIS
|
100 / 7739
|