rs141772938 in
ACO2 gene and
OPTIC ATROPHY 9
PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
rs752034900 in
POLR3H;ACO2 gene and
OPTIC ATROPHY 9
PMID 25351951 2014 Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.