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 July 2026
Newly diagnosed with
Severe neonatal-onset encephalopathy with microcephaly?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
Genetic Epilepsy Team Australia
Collaboration of research and care
Legacy Bridges Foundation, Inc
The Legacy Bridges Foundation, Inc. is a 501(c)3 non-profit organization founded to bridge the gap to support, educate and advocate for individuals, families and caregivers of those living with epilepsy and other seizure related disorders. The Legacy Bridges Foundation, Inc. is dedicated to helping champions live a sustainable life through participation of essential supportive programs and service
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.