myoclonic dystonia 26
MONDO:0014620Mondo
Findings
No curated finding names myoclonic dystonia 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.
Definition from the Mondo Disease Ontology (MONDO:0014620), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
9 features
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.
- DystoniaHPOHP:0001332
- 7 of 8 reported patients
- MyoclonusHPOHP:0001336
- 7 of 8 reported patients
- TorticollisHPOHP:0000473
- 5 of 8 reported patients
- BlepharospasmHPOHP:0000643
- 3 of 8 reported patients
- AnxietyHPOHP:0000739
- 1 of 8 reported patients
- DepressionHPOHP:0000716
- 1 of 8 reported patients
- DysarthriaHPOHP:0001260
Genes
1 gene
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.
- KCTD17HGNC:25705
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: myoclonic dystonia 26
- Also called
- KCTD17 myoclonus-dystonia syndromemyoclonic dystonia type 26myoclonus-dystonia syndrome caused by mutation in KCTD17