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Griscelli syndrome type-1 (Chediak-Higashi-like syndrome)
Genetics:
- mutations in myosin heavy chain 12 (myosin-Va) gene seen in 2 patients
Clinical manifestations:
- hypomelanosis
- primary neurologic disorder
- with or without immunologic impairment
- developmental delay
- hypotonia
- mental retardation
General
Griscelli syndrome
Database Correlations
OMIM 214450
References
- Pastural E et al
Griscelli disease maps to chromosome 15q21 and is associated
with mutations in the myosin-Va gene.
Nature Genetics 16:289-92, 1997
PMID: 9207796
- OMIM :accession 214450