GNB5-related intellectual disability-cardiac arrhythmia syndrome

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A rare genetic disease characterized by intellectual disability developmental delay language deficits and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy hypotonia retinal abnormalities nystagmus attention deficit hyperactivity disorder autism and gastroesophageal reflux. The severity of the phenotype is highly variable.

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 June 2024

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GNB5-related intellectual disability-cardiac arrhythmia syndrome?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.