Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare syndromic intellectual disability syndrome characterized by cortical blindness different types of seizures intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia hypoplasia of the corpus callosum and atrophy in the occipital region.

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 July 2024

Newly diagnosed with
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

Don't see your organization here. Let us know here.

Clinical Trials

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