A deletion of the 11q12.2q14.1 region encompassing (DAGLA, BEST1, SPTBN2, SHANK2, FADD, FGF3, KMT5B, GAL, PHOX2A and CLPB) genes are known to cause spinocerebellar ataxia, deafness, epilepsy, fibrosis of muscle type 2 and 3-methylglutaconic aciduria type VII [42,43]. This evidence concerns the gene KMT5B and cerebellar ataxia.