GNB5-related intellectual disability-cardiac arrhythmia syndrome
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 April 2024
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GNB5-related intellectual disability-cardiac arrhythmia syndrome?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.