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intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA: 468620

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with intellectual disability-epilepsy-extrapyramidal syndrome, sourced from HPO and Orphanet clinical annotations.

Reduced eye contactIntellectual disabilityConstipationSleep disturbanceSevere global developmental delayBrain imaging abnormalityMicrocephalyEmotional labilityAutismAggressive behaviorGait ataxiaBroad-based gaitDevelopmental regressionRecurrent infectionsFloppy infantAbnormality of pain sensationFeeding difficultiesTip-toe gaitMacrocephalyAgitationAutistic behaviorSeizureAbsent speechStatus epilepticusGait imbalanceDroolingClumsinessUnsteady gaitWaddling gaitInvoluntary movements

Classification & Codes

Orphanet Code

ORPHA:468620
intellectual disability-epilepsy-extrapyramidal syndrome
OrphanetORPHA:468620
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO