Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11


rs387907033 in SYT14 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 PMID 21835308 2011 Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.