Clinical feature |
Associated with HPS subtype |
No of patients with clinical feature |
restrictive lung disease |
1, 2, 4 |
127 |
variable pigment dilution |
1, 2, 4, 7-9 |
3 |
decreased visual acuity |
1-4, 9 |
11 |
nystagmus |
1-9 |
1 |
hemorrhage, prolonged bleeding, easy bruising |
1-8 |
7 |
granulomatous colitis |
1, 4 |
1 |
conductive hearing loss |
2 |
1 |
neutropenia, immunodeficiency |
2 |
1 |
dysplastic acetubulae |
2 |
0 |
poor balance |
2 |
0 |
hypercholesterolemia |
5 |
8 |
|