early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
ORPHA: 411986
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-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Low anterior hairlineBroad nasal tipAnteverted naresTelecanthusPeriorbital fullnessReduced eye contactIntellectual disabilityHypoplasia of the corpus callosumPoor speechGeneralized tonic seizureMultifocal epileptiform dischargesOccipital cortical atrophyHypoplasia of the ponsCerebral visual impairmentEverted lower lip vermilionShort philtrumNarrow foreheadBulbous noseProminent nasal bridgeLong eyelashesAnophthalmiaThick eyebrowSynophrysMotor stereotypyHypotoniaMyoclonusGeneralized non-motor (absence) seizureFocal impaired awareness seizureHypsarrhythmiaInability to walkLarge earlobeProminent ear helixAtonic seizureInfantile spasmsThick vermilion borderAbnormal spaced incisors
Classification & Codes
Orphanet Code
ORPHA:411986early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
| Orphanet | ORPHA:411986 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO