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Early-onset Lafora body disease

disorder
SNOMED 733082001CUI C4518574

Overview

Early-onset Lafora body disease is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Jerking
Very frequent (80-99%)HP:0001336
Lafora bodies
Very frequent (80-99%)HP:0100318
Behavioral changes
Frequent (30-79%)HP:0000708
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Increased reflexes
Frequent (30-79%)HP:0001347
Ataxia
Occasional (5-29%)HP:0001251
Confusion
Occasional (5-29%)HP:0001289
Epilepsy
Occasional (5-29%)HP:0001250
Intellectual deterioration
Occasional (5-29%)HP:0001268
Mutism
Occasional (5-29%)HP:0002300
Spastic tetraparesis
Occasional (5-29%)HP:0001285
Paranoia
Very rare (1-4%)HP:0011999

Quick Facts

SNOMED CT
733082001
UMLS CUI
C4518574
Fully Specified Name
Early-onset Lafora body disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
12
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.