Condition: Ophthalmoplegia


rs141970897 in CRAT gene and Ophthalmoplegia PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs374997012 in TWNK;MRPL43 gene and Ophthalmoplegia PMID 27551684 2016 Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.