RNF13-related severe early-onset epileptic encephalopathy
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 September 2023.
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RNF13-related severe early-onset epileptic encephalopathy?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.