Term Name: Griscelli syndrome type 1
Synonyms: Griscelli syndrome with neurological impairment, Griscelli syndrome, cutaneous and neurological type, Griscelli-Prunieras syndrome type 1, GS1, hypopigmentation-neurologic impairment syndrome
Definition: A 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.
Ontology: Human Disease [DOID:0060832]   ( DOID:0060832 )

Relationships
is a type of: Griscelli syndrome