Huntington disease-like 3
Findings
No curated finding names Huntington disease-like 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
Definition from the Mondo Disease Ontology (MONDO:0011487), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Abnormal head movementsHPOHP:0002457
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Bowel incontinenceHPOHP:0002607
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Caudate atrophyHPOHP:0002340
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
Show the remaining 10
- Extrapyramidal dyskinesiaHPOHP:0007308
- Frequent (30% to 79% of cases)
- Extrapyramidal muscular rigidityHPOHP:0007076
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- Loss of facial expressionHPOHP:0005327
- Frequent (30% to 79% of cases)
- MutismHPOHP:0002300
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Huntington disease-like 3
- Also called
- HDL3Huntington disease-like type 3