CDKL5-deficiency disorder
Synonyms: CDD
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.
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 2024
Newly diagnosed with
CDKL5-deficiency disorder?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Hope4Harper
Treatment Options for CDKL5 that Work (TOCW)
International Foundation for CDKL5 Research
To treat and cure CDKL5 Deficiency Disorder by funding scientific research, while helping affected individuals and their families to thrive.
Clinical Trials
For a list of clinical trials in this disease area, please click here.