A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills and development of severe dysphagia requiring tube feeding seizures cerebellar syndrome dystonia and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities ambulation is preserved and brain imaging is normal.
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 2026
Newly diagnosed with
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome?
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Advocacy Organizations
Tough Genes
Tough Genes is dedicated to advancing research and treatment for rare genetic disorders, with a focus on IRF2BPL-related conditions. Founded by families directly impacted, our mission is to accelerate life-saving scientific progress, support affected individuals and their loved ones, and raise awareness of ultra-rare diseases.
Yellow for Yiannis IRF2BPL Foundation
Yellow for Yiannis IRF2BPL foundation was created with two very big missions. Funding and developing a viable treatment for IRF2BPL and helping families obtain the treatment that we are hoping will empower our children. IRF2BPL is a fatal progressive neuro-degenerative disorder.. with no known treatments/cures... YET.. We exist to be a resource for IRF2BPL and Rare as a whole!!
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Clinical Trials
For a list of clinical trials in this disease area, please click here.