undetermined early-onset epileptic encephalopathy
ORPHA: 442835
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 undetermined early-onset epileptic encephalopathy, sourced from HPO and Orphanet clinical annotations.
EncephalopathyDelayed speech and language developmentIntellectual disabilitySeizureGlobal developmental delayHyporeflexiaGeneralized hypotoniaFailure to thriveDevelopmental regressionEEG with multifocal slow activityAbnormality of coordinationMicrocephalyHigh foreheadDownslanted palpebral fissuresPtosisNystagmusHypodontiaAtypical behaviorAutismAtaxiaSpasticityMental deteriorationAbnormal corpus callosum morphologyGait disturbanceReduced tendon reflexesMyoclonusTremorDecreased fetal movementGastroesophageal refluxCerebral atrophyRigidityUnsteady gaitPoor head controlHypsarrhythmiaInvoluntary movementsShort statureAttention deficit hyperactivity disorderFeeding difficultiesBrain atrophyAbnormal myelinationDyskinesiaImpulsivityAbnormality of visionRetinal degenerationOptic atrophyStatus epilepticusLimb hypertoniaAbnormal involuntary eye movements
Classification & Codes
Orphanet Code
ORPHA:442835undetermined early-onset epileptic encephalopathy
| Orphanet | ORPHA:442835 |
| Treatments | 0 drug(s) |
| Symptoms on record | 48 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO