Conditions / Syndrome

Hermansky-Pudlak syndrome 6

info · Syndrome

A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Signs and symptoms

  • Prolonged bleeding time
  • Ecchymosis
  • Photophobia
  • Reduced visual acuity
  • Albinism
  • Impaired arachidonic acid-induced platelet aggregation
  • Impaired collagen-induced platelet aggregation
  • Amblyopia
  • Impaired ADP-induced platelet aggregation
  • Iris transillumination defect