Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7


rs398122959 in TPP1 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 PMID 23418007 2013 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).