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 May 2026
Newly diagnosed with
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.