Griscelli syndrome type-1 (Chediak-Higashi-like syndrome)
Jump to navigation
Jump to search
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
More general terms
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: https://www.ncbi.nlm.nih.gov/pubmed/9207796
- ↑ OMIM https://mirror.omim.org/entry/214450