Conditions / Syndrome
Hermansky-Pudlak syndrome 9
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
Signs and symptoms
- Decreased total leukocyte count
- Nystagmus
- Recurrent skin infections
- Ocular albinism
- Thrombocytopenia
- Hypopigmentation of the skin
- Fundus hypopigmentation
- Abnormal platelet aggregation
- Global developmental delay