GNAO1-related developmental delay-seizures-movement disorder spectrum
Synonyms: GNAO1-related neurodevelopmental disorder | GNAO1-related spectrum
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia variably associated with intellectual disability early-onset seizures and movement disorders such as dystonia ataxia chorea and dyskinesia. Brain imaging may show delayed myelination thin corpus callosum or cerebral atrophy.
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
Newly diagnosed with
GNAO1-related developmental delay-seizures-movement disorder spectrum?
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Advocacy Organizations
Bow Foundation
The Bow Foundation is dedicated to supporting GNAO1 families, research and awareness.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.