1
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
115122
|
IBIS
|
46 / 7739
|
2
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
1951438
|
IBIS
|
40 / 7739
|
3
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
1951438
|
IBIS
|
297 / 7739
|
4
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
13680365
|
IBIS
|
38 / 7739
|
5
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
10332009
|
IBIS
|
180 / 7739
|
6
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
19060277
|
IBIS
|
158 / 7739
|
7
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Frequent [Orphanet]
|
|
6187545
|
IBIS
|
34 / 7739
|
8
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
10
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
1951438
|
IBIS
|
555 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
|
|
1951438
|
IBIS
|
576 / 7739
|
12
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
13
|
(HPO:0007750)
|
Hypoplasia of the fovea |
|
|
1951438
|
IBIS
|
11 / 7739
|
14
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
15
|
(HPO:0011364)
|
White hair |
|
|
13680365
|
IBIS
|
4 / 7739
|
16
|
(HPO:0200098)
|
Absent skin pigmentation |
|
|
115122
|
IBIS
|
2 / 7739
|
17
|
(OMIM)
|
Translucent irides |
|
|
13825323
|
IBIS
|
3 / 7739
|
18
|
(OMIM)
|
Absent retinal pigment |
|
|
20301345
|
IBIS
|
1 / 7739
|
19
|
(OMIM)
|
Albinotic optic disc |
|
|
15059699
|
IBIS
|
1 / 7739
|
20
|
(OMIM)
|
Misrouting of the optic nerves at the chiasm |
|
|
20301345
|
IBIS
|
2 / 7739
|
21
|
(OMIM)
|
Positive angle kappa (appearance of exotropia but no shift on cover test) |
|
|
15059699
|
IBIS
|
2 / 7739
|
22
|
(OMIM)
|
Absent tyrosinase activity |
|
|
2120217
|
IBIS
|
1 / 7739
|
23
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Very frequent [Orphanet]
|
|
11860983
|
IBIS
|
21 / 7739
|
24
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
15059699
|
IBIS
|
187 / 7739
|