Severe neonatal-onset encephalopathy with microcephaly

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Name:
Severe neonatal-onset encephalopathy with microcephaly
Description:
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.
ORPHAcode:
209370
Synonyms:
Severe congenital encephalopathy due to MECP2 mutation
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14