Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Lafora bodies
Always present (100%)HP:0100318
Seizures
Very frequent (80-99%)HP:0001250
Ataxia
Frequent (30-79%)HP:0001251
Confusion
Frequent (30-79%)HP:0001289
Depressive episode
Frequent (30-79%)HP:0000716
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Emotional lability
Frequent (30-79%)HP:0000712
Erratic myoclonus
Frequent (30-79%)HP:0025357
Gait disturbance
Frequent (30-79%)HP:0001288
Generalized myoclonic seizure
Frequent (30-79%)HP:0002123
Giant somatosensory evoked potentials
Frequent (30-79%)HP:0001312
Headache
Frequent (30-79%)HP:0002315
Hypsarrhythmia by EEG
Frequent (30-79%)HP:0002521
Inability to walk
Frequent (30-79%)HP:0002540
Intellectual deterioration
Frequent (30-79%)HP:0001268
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Nasogastric tube feeding
Frequent (30-79%)HP:0040288
Progressive dementia
Frequent (30-79%)HP:0000726
Prolonged seizure
Frequent (30-79%)HP:0002133
Recurrent aspiration pneumonia
Frequent (30-79%)HP:0002100
Visual hallucination
Frequent (30-79%)HP:0002367
Atypical absence
Occasional (5-29%)HP:0007270
Brain wasting
Occasional (5-29%)HP:0012444
Focal seizures
Occasional (5-29%)HP:0007359
Generalized non-motor (absence) seizure
Occasional (5-29%)HP:0002121
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Hepatic insufficiency
Occasional (5-29%)HP:0001399
Jerking
Occasional (5-29%)HP:0001336
Localized dyscognitive seizure
Occasional (5-29%)HP:0002384
Secondary generalized tonic clonic seizures
Occasional (5-29%)HP:0007334
Related Conditions
Quick Facts
- SNOMED CT
- 230425004
- UMLS CUI
- C0751783
- Fully Specified Name
- Lafora disease (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.