DISEASES

Disease-gene associations mined from literature

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,  GS2,  Griscelli syndrome with hemophagocytic syndrome,  Griscelli-Pruni��ras syndrome type 2 ...