Huntington disease-like syndrome due to C9ORF72 expansions
MONDO:0018425Mondo
Findings
No curated finding names Huntington disease-like syndrome due to C9ORF72 expansions yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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.
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Inappropriate behaviorHPOHP:0000719
- Frequent (30% to 79% of cases)
- Memory impairmentHPOHP:0002354
- Frequent (30% to 79% of cases)
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
- DystoniaHPOHP:0001332
- Occasional (5% to 29% of cases)
- ParkinsonismHPOHP:0001300
- Occasional (5% to 29% of cases)
- PsychosisHPOHP:0000709
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- Occasional (5% to 29% of cases)
Show the remaining 2
- Upper motor neuron dysfunctionHPOHP:0002493
- Occasional (5% to 29% of cases)
- MyoclonusHPOHP:0001336
- Very rare (1% to 4% of cases)
Where it sits
Other names
3 names
Resolves to: Huntington disease-like syndrome due to C9ORF72 expansions
- Also called
- C9ORF72-related Huntington disease phenocopyC9ORF72-related Huntington disease-like syndromeHuntington disease phenocopy due to C9ORF72 expansions