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 http: // Data version September 2023.

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FOXG1 syndrome?

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Advocacy Organizations

The Children’s Rare Disorders Fund

The Children's Rare Disorders Fund is dedicated to curing rare genetic disorders generally identified in childhood, beginning with FOXG1 Syndrome. Founded by parents of a toddler affected with FOXG1, The CRD Fund focuses research and development projects, aiming to fund research for as many rare disorders as possible, in order to cure as many children as possible.

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.