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severe neonatal-onset encephalopathy with microcephaly

MeSH: C566878ORPHA: 209370

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 severe neonatal-onset encephalopathy with microcephaly, sourced from HPO and Orphanet clinical annotations.

EncephalopathyRespiratory insufficiencyApneaSevere global developmental delayMicrocephalySeizureSpasticityGrowth delayGastroesophageal refluxPoor suckBilateral tonic-clonic seizureInvoluntary movementsGeneralized neonatal hypotoniaEEG with focal slow activityGastrostomy tube feeding in infancyHigh palateCerebral atrophyPolymicrogyriaMultifocal epileptiform discharges

Classification & Codes

MeSH Code

C566878

Orphanet Code

ORPHA:209370
severe neonatal-onset encephalopathy with microcephaly
MeSHC566878
OrphanetORPHA:209370
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO