Conditions / Syndrome
Hermansky-Pudlak syndrome 4
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Signs and symptoms
- Abnormal bleeding
- Menorrhagia
- Albinism
- Absent platelet dense granules
- Reduced visual acuity
- Bruising susceptibility
- Epistaxis
- Hypoplasia of the fovea
- Ocular albinism
- Horizontal nystagmus