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Human Disease

TANGO2-related metabolic encephalopathy and arrythmias

Term ID
DOID:0081386
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. (2)
References
Ontology
Human Disease   ( DOID:0081386 )
Relationships
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Genes Involved
Zebrafish Models