GNAO1-related developmental delay-seizures-movement disorder spectrum

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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 Data version May 2024

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