FOXG1 syndrome

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FOXG1 syndrome

Synonyms: FOXG1-related epileptic-dyskinetic encephalopathy

A rare genetic neurological disorder characterized by early onset of microcephaly severe global developmental delay and cognitive impairment dyskinesia and hyperkinetic movements visual impairment autistic behavior stereotypies sleep disturbance epilepsy and cerebral malformations (such as corpus callosum hypogenesis forebrain anomaly and delayed myelination). Speech is minimal or absent and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations with the addition of facial dysmorphism and agenesis of the corpus callosum.

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 February 2024

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FOXG1 syndrome?

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Advocacy Organizations

SCN2A Foundation

The SCN2A Foundation is a global initiative dedicated towards accelerating research and treatment for SCN2A. We plan to achieve this by building collaborative networks among the global research community, organizing resources, and strategically investing in highly focused research directed towards therapeutic development.

Clinical Trials

For a list of clinical trials in this disease area, please click here.