Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay hypotonia seizures growth delay and intellectual disability. Additional variable features include strabismus cortical visual impairment nystagmus movement disorder (such as dystonia ataxia or chorea) or mild dysmorphic features among others.
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
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome?
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Advocacy Organizations
Scarlett’s GABRA1 Village
We are a patient advocacy organization dedicated to improving the lives of children and families affected by this condition and other GABA-A mutations by raising awareness, creating a sense of community and collaborating with researchers to develop scientific treatment options.
Scarlett’s GABRA1 Village
We are a patient advocacy organization dedicated to improving the lives of children and families affected by this condition and other GABA-A mutations by raising awareness, creating a sense of community and collaborating with researchers to develop scientific treatment options.
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.