dystonia 28, childhood-onset
Findings
No curated finding names dystonia 28, childhood-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.
Definition from the Mondo Disease Ontology (MONDO:0015004), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
33 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
- 6 of 6 reported patients
- Generalized dystoniaHPOHP:0007325
- Very frequent (80% to 99% of cases)
- Globus pallidus hypointensity on susceptibility-weighted imagingHPOHP:0033049
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 4 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 21
- Short statureHPOHP:0004322
- 3 of 6 reported patients
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- 3 of 6 reported patients
- Abnormal pyramidal signHPOHP:0007256
- Occasional (5% to 29% of cases)
- AnarthriaHPOHP:0002425
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
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.
- KMT2BHGNC:15840
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: dystonia 28, childhood-onset
- Also called
- dystonia 28, childhood-onset; DYT28dystonic disorder caused by mutation in KMT2BDYT28KMT2B dystonic disorder