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.