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, muscle weakness, rhabdomyolysis, hypotonia, neurologic regression, developmental delay, motor delay, progressive neurodegeneration, epilepsy, pyramidal and cerebellar signs, loss of expressive language, severe cardiac arrhythmias, hypoglycemia, metabolic acidosis, lactic acidemia |
| 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: | 2022-11-06 |
| References |
|---|
| Personal communication; seen at CSC. |
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