Ring chromosome 20 syndrome
Synonyms: Ring 20 | Ring chromosome 20
A rare chromosomal disorder characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG) mild to severe intellectual disability and behavioral problems.
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.
Newly diagnosed with
Ring chromosome 20 syndrome?
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Advocacy Organizations
Ring20 Research and Support UK CIO
Our mission is to provide support for individuals, families and healthcare professionals who are affected by, or who come into contact with Ring Chromosome 20 Syndrome or r(20) – a rare epilepsy syndrome. Our vision is promoting research, education and continuous support to end undiagnosed and misdiagnosed Ring20 epilepsy.
Ring20 Research and Support UK CIO
Our mission is to provide support for individuals, families and healthcare professionals who are affected by, or who come into contact with Ring Chromosome 20 Syndrome or r(20) – a rare epilepsy syndrome. Our vision is promoting research, education and continuous support to end undiagnosed and misdiagnosed Ring20 epilepsy.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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.