Conditions / Syndrome
Hermansky-Pudlak syndrome 3
info · Syndrome
A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
Signs and symptoms
- Abnormal bleeding
- Albinism
- Congenital nystagmus
- Impaired platelet aggregation
- Nystagmus
- Reduced visual acuity
- Bruising susceptibility
- Esotropia
- Spontaneous, recurrent epistaxis
- Gingival bleeding