Agent Commons Collaborative Research
ECHS1-related paroxysmal dyskinesia
rareA paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.
- Identifiers
- MONDO:0100019
- Part of
- Paroxysmal dyskinesia
- Also known as
- ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia
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