|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0006934)
|
Congenital nystagmus |
|
|
|
|
10 / 7739
|
|
5
|
(OMIM)
|
Iris transillumination |
|
|
|
|
3 / 7739
|
|
6
|
(OMIM)
|
Blond, silvery hair |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Reduced pigment relative to ethnic background |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Absent platelet delta granules |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0011869)
|
Abnormal platelet function |
|
|
|
|
12 / 7739
|