paroxysmal nonkinesigenic dyskinesia 1
Findings
No curated finding names paroxysmal nonkinesigenic dyskinesia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.
Definition from the Mondo Disease Ontology (MONDO:0700089), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Paroxysmal choreoathetosisHPOHP:0007098
- 12 of 12 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: paroxysmal nonkinesigenic dyskinesia 1
- Also called
- paroxysmal dyskinesia caused by mutation in PNKDparoxysmal nonkinesigenic dyskinesia type 1PNKD paroxysmal dyskinesiaPxMD-PNKD