Condition: Intermittent lactic acidemia


rs867410737 in ATP5F1D gene and Intermittent lactic acidemia PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs752298579 in TANGO2 gene and Intermittent lactic acidemia PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.