Conditions / Skin
Griscelli syndrome type 3
info · Skin
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.
Signs and symptoms
- Silver-gray hair
- Large clumps of pigment irregularly distributed along hair shaft
- White eyelashes
- Abnormality of the nervous system
- Immunodeficiency
Also known as: GS3; Griscelli-Prunieras syndrome type 3