Griscelli syndrome type 1

Also known as GS1, Griscelli syndrome with neurological impairment, Griscelli syndrome, cutaneous and neurological type, Griscelli-Pruniéras syndrome type 1, hypopigmentation-neurologic impairment syndrome, Griscelli-Pruni��ras syndrome type 1

Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2