Term Name: | TANGO2-related metabolic encephalopathy and arrythmias |
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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 ) |