Severe neonatal-onset encephalopathy with microcephaly
Synonyms: Severe congenital encephalopathy due to MECP2 mutation
Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy microcephaly severe developmental delay or absent development breathing abnormalities (including central hypoventilation and/or respiratory insufficiency) intractable seizures abnormal muscle tone and involuntary movements. Early death is usual.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Severe neonatal-onset encephalopathy with microcephaly?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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