Synonyms: RNF13-related severe EOEE
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly infantile-onset epileptic encephalopathy and profound developmental delay. Additional reported features include cortical visual impairment sensorineural hearing loss increased muscle tone limb contractures scoliosis and dysmorphic features like midface hypoplasia narrow forehead short nose narrowed nasal bridge and small chin. Brain imaging may show thin corpus callosum and delayed myelination.
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 May 2026
Newly diagnosed with
RNF13-related severe early-onset epileptic encephalopathy?
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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
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.