TANGO2-related metabolic encephalopathy and arrythmias (DOID:0081386)
Alliance: disease page
Synonyms: metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; TANGO2 deficiency
Alt IDs: OMIM:616878, ORDO:480864
Definition: A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.