early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
ORPHA: 289266
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 and intellectual disability due to GRIN2A mutation, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorSpecific learning disabilityBilateral tonic-clonic seizurePoor head controlFloppy infantEEG with multifocal slow activitySevere intellectual disabilityProfound global developmental delayHyporeflexiaHypertoniaMyoclonusSmall for gestational agePes cavusAbnormal facial shapeHypoplasia of the corpus callosumModerate intellectual disabilityFebrile seizure (within the age range of 3 months to 6 years)Diffuse cerebral atrophyShort noseShort statureSecondary microcephalyFocal-onset seizureAxial hypotoniaGeneralized tonic seizureEpileptic spasmPrimary microcephalyStereotypical hand wringingAbnormal myelinationAbnormal involuntary eye movements
Classification & Codes
Orphanet Code
ORPHA:289266early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
| Orphanet | ORPHA:289266 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO