ECHS1-related paroxysmal dyskinesia
A 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.
MONDO:0015427
paroxysmal dyskinesia
is_a
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia
exact