Griscelli syndrome type-3

Epidemiology

rare

Pathology

• accumulation of melanosomes in melanocytes

Genetics

• autosomal recessive
• associated with mutations in MLPH gene
• associated with mutations in MYO5A gene

Clinical manifestations

• pigmentary dilution of the skin & hair
• large clumps of pigment in hair shafts
• without other clinical manifestations

More general terms

• Griscelli syndrome

Database

• OMIM: https://mirror.omim.org/entry/609227