| Term Name: | TANGO2-related metabolic encephalopathy and arrythmias |
|---|---|
| Synonyms: | metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, TANGO2 deficiency |
| 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. |
| Ontology: | Human Disease [DOID:0081386] ( DOID:0081386 ) |