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Griscelli syndrome type 1
rareA Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.
- Identifiers
- MONDO:0008962 OMIM:214450Orphanet:79476
- Causal genes
- MYO5A
- Also known as
- Griscelli syndrome, type 1 · Griscelli-PruniC)ras syndrome type 1 · Griscelli-Pruniéras syndrome type 1 · GS1 · hypopigmentation-neurologic impairment syndrome
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