Conditions / Syndrome
Hermansky-Pudlak syndrome 8
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
Signs and symptoms
- Reduced visual acuity
- Ocular albinism
- Albinism
- Impaired platelet aggregation
- Pendular nystagmus
- Hypoplasia of the fovea
- Generalized hypopigmentation
- Iris transillumination defect
- Menorrhagia
- Optic disc pallor