Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acanthocytosis
Always present (100%)HP:0001927
Axonal neuropathy
Always present (100%)HP:0003477
Bruxism
Always present (100%)HP:0003763
Caudate degeneration
Always present (100%)HP:0002340
Central hypotonia
Always present (100%)HP:0001252
Choreatic disease
Always present (100%)HP:0002072
Deglutition disorder
Always present (100%)HP:0002015
Difficulty articulating speech
Always present (100%)HP:0001260
Dilatation of lateral cerebral ventricles
Always present (100%)HP:0006956
Lack of feeling, emotion, interest
Always present (100%)HP:0000741
Orofacial dyskinesias
Always present (100%)HP:0002310
Self-mutilation of tongue and lips due to involuntary movements
Always present (100%)HP:0008767
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Depressive episode
Frequent (30-79%)HP:0000716
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Hyporeflexia
Frequent (30-79%)HP:0001265
Increased lactate dehydrogenase level
Frequent (30-79%)HP:0025435
Progressive dementia
Occasional (5-29%)HP:0000726
Dystonic disease
HP:0001332
Emotional lability
HP:0000712
Epilepsy
HP:0001250
Impulse control disorders
HP:0000734
Limb muscle weakness
HP:0003690
Neurogenic muscle atrophy, especially in the lower limbs
HP:0003202
Parkinsonian disease
HP:0001300
Personality changes
HP:0000751
Pes cavus
HP:0001761
physical aggression
HP:0000718
Related Conditions
Quick Facts
- SNOMED CT
- 66881004
- UMLS CUI
- C0393576
- Fully Specified Name
- Choreoacanthocytosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.