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Griscelli syndrome type 3
rareA 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.
- Identifiers
- MONDO:0012220 OMIM:609227Orphanet:79478
- Causal genes
- MLPH
- Part of
- Griscelli syndrome
- Also known as
- Griscelli syndrome, type 3 · Griscelli-PruniC)ras syndrome type 3 · Griscelli-Pruniéras syndrome type 3 · Griscelli-Pruni��ras syndrome type 3 · GS3
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