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.