global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
ORPHA: 488613
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 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Developmental regressionFocal impaired awareness seizureLimb hypertoniaInability to walkImpaired smooth pursuitFloppy infantEEG with generalized epileptiform dischargesCerebral visual impairmentOverfolded helixPectus excavatumPolymicrogyriaDelayed myelinationGlobal developmental delayGeneralized hypotoniaIntellectual disabilitySeizureFailure to thriveGrowth delayEEG abnormalityExpressive language delayMultifocal epileptiform dischargesFeeding difficultiesHydronephrosisCleft palateHigh palateStrabismusNystagmusBilateral tonic-clonic seizure
Classification & Codes
Orphanet Code
ORPHA:488613global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
| Orphanet | ORPHA:488613 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO