Human genes for Griscelli syndrome type 2
Griscelli syndrome type 2 [DOID:0060833]
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3.
Synonyms: Griscelli syndrome type 2, DOID:0060833, Griscelli-Prunieras syndrome type 2, Griscelli syndrome with hemophagocytic syndrome, GS2 ...