megalencephaly
ICD-10: Q04.5MeSH: D058627ORPHA: 99802
Overview
neurodevelopmental disorder characterized by abnormally large brain.
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 megalencephaly, sourced from HPO and Orphanet clinical annotations.
SeizureInterictal EEG abnormalityHyperintensity of cerebral white matter on MRICranial asymmetryAbnormal skull morphologyGlobal developmental delayVentriculomegalyPolymicrogyriaEEG with polyspike wave complexesHemimegalencephalyEEG with burst suppressionFocal motor seizureEEG with focal spikesEEG with focal sharp slow wavesHemihypsarrhythmiaFocal cortical dysplasiaMacrocephalyOptic atrophyHemiparesisPachygyriaMyoclonusStatus epilepticusGliosisGray matter heterotopiaFunctional motor deficitCranial nerve paralysisAtonic seizureSevere intellectual disabilityEpileptic spasmFocal tonic seizureOculomotor nerve palsyHemianopiaAbnormal neuron morphology
Classification & Codes
ICD-10 Code
Q04.5MeSH Code
D058627Orphanet Code
ORPHA:99802megalencephaly
| ICD-10 | Q04.5 |
| MeSH | D058627 |
| Orphanet | ORPHA:99802 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO