Conditions / Syndrome
Hermansky-Pudlak syndrome 7
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
Signs and symptoms
- Menorrhagia
- Impaired platelet aggregation
- Prolonged bleeding time
- Post-partum hemorrhage
- Nystagmus
- Prolonged bleeding after dental extraction
- Ocular albinism
- Reduced visual acuity
- Bruising susceptibility
- Persistent bleeding after trauma