/Griscelli syndrome type 3

Griscelli syndrome type 3

Rare Disease

MONDO:0012220

Also Known As

GS3Griscelli syndrome type 3Griscelli-PruniC)ras syndrome type 3Griscelli-Pruniéras syndrome type 3Griscelli-Pruni��ras syndrome type 3Griscelli disease type 3Griscelli syndrome, type 3hypomelanosis with no immunologic or neurologic manifestations

Definition

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.