| 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 |
|