has material basis in germline mutation in TANGO2 syndromic intellectual disability recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias https://www.malacards.org/card/metabolic_crises_recurrent_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration https://www.malacards.org/card/tango2_related_metabolic_encephalopathy_and_arrythmias transport and golgi organisation protein 2 (TANGO2) deficiency TANGO2 deficiency MEDGEN:1798947 Orphanet:480864 MONDO:0018820 GARD:0013423 TANGO2 Deficiency Disorder UMLS:C5567524 MECRCN Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. NORD:1944 transport and golgi organization protein 2 (TANGO2) deficiency OMIM:616878 DOID:0081386 inherited neurodegenerative disorder