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 )

Relationships
is a type of: autosomal recessive disease syndrome