early infantile epileptic encephalopathy 55
ORPHA: 1934
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 early infantile epileptic encephalopathy 55, sourced from HPO and Orphanet clinical annotations.
SeizureIntellectual disabilityGlobal developmental delayGeneralized myoclonic seizureFocal motor seizureEpileptic encephalopathyLethargyHyperreflexiaDysphagiaPoor suckRecurrent respiratory infectionsEEG abnormalitySleep disturbancePoor head controlHypsarrhythmiaFloppy infantEEG with burst suppressionFocal tonic seizureFeeding difficultiesAutistic behaviorHyperactivitySpasticityChoreoathetosisCerebellar atrophyPachygyriaMyoclonusTremorBilateral tonic-clonic seizureHypoplasia of the corpus callosumGeneralized non-motor (absence) seizureEpisodic ataxiaFebrile seizure (within the age range of 3 months to 6 years)Developmental regressionDiffuse cerebral atrophyDiffuse white matter abnormalitiesFocal-onset seizureGeneralized tonic seizureAtonic seizureEEG with spike-wave complexesGeneralized clonic seizureUni- and bilateral multifocal epileptiform dischargesDelayed myelinationInfantile spasmsDyskinesiaSelf-injurious behaviorMicropenisUreteroceleRenal dysplasiaCleft palateMicrocephalySloping foreheadAnteverted naresStrabismusPrecocious pubertyDystoniaBroad fingerFailure to thriveUmbilical herniaVentricular septal defectDepressed nasal bridgeShort fingerBroad phalanx of the toesAbsent thumbnail
Classification & Codes
Orphanet Code
ORPHA:1934early infantile epileptic encephalopathy 55
| Orphanet | ORPHA:1934 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO