Conditions / Syndrome
Hermansky-Pudlak syndrome 1
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
Signs and symptoms
- Hypopigmentation of hair
- Hypopigmentation of the skin
- Ecchymosis
- Nystagmus
- Photophobia
- Bruising susceptibility
- Renal insufficiency
- Colitis
- Prolonged bleeding time
- Blindness