Severe neonatal-onset encephalopathy with microcephaly

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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: // Data version October 2023.

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