Amish, Mennonite, and Hutterite
Genetic Disorder Database

Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration

Disorder
OMIM #: #616878  (Click to access OMIM database)
Disorder: Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration 
Also known as:  
Clinical
Phenotype: episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system, acute encephalomyopathy, rhabdomyolysis, hypotonia, neurologic regression, delayed psychomotor development, progressive neurodegeneration, epilepsy, cognitive impairment, pyramidal and cerebellar signs, loss of expressive language, severe cardiac arrhythmias 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: TANGO2
Base Change: 22.6 kb deletion
Amino Acid Change:
Last updated: 2019-07-05 

References
Personal communication; seen at CSC.  

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