ECHS1-related paroxysmal dyskinesia
MONDO:0100019Mondo
Findings
No curated finding names ECHS1-related paroxysmal dyskinesia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100019), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: ECHS1-related paroxysmal dyskinesia
- Also called
- ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia