Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24


rs886039762 in NPHP3-ACAD11;UBA5 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 PMID 26872069 2016 UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.