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spinocerebellar ataxia 31; spinocerebellar ataxia Holmes type (SCA31)
Genetics:
1) autosomal dominant
2) caused by a 2.5-3.8 kb insertion containing pentanucleotide repeats including (TGGAA)n within an intron of the BEAN gene
Clinical manifestations:
- features of spinocerebellar ataxia
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 117210
References
(OMIM :accession 117210