Griscelli syndrome type 1 (DOID:0060832)
Alliance: disease page
Synonyms: Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-Prunieras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome
Alt IDs: OMIM:214450, MESH:C537301, ORDO:79476, UMLS_CUI:C1859194
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.