severe congenital encephalopathy due to MECP2 mutation

A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.

Signs and symptoms

• Encephalopathy
• Axial hypotonia
• Progressive microcephaly
• EEG abnormality
• Seizure
• Global developmental delay
• Rigidity
• Gastroesophageal reflux
• Respiratory insufficiency
• Severe intellectual disability

Also known as: neonatal severe encephalopathy due to MECP2 mutations; severe neonatal-onset encephalopathy with microcephaly