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 July 2026
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
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
CDKL5 Alliance – CDKL5 Turkey
Accessible treatment options for CDKL5 worldwide
CDKL5 Research Collaborative
to fund clinical and therapeutic research and raise awareness of CDKL5 disorder, while developing treatments and standards of care to improve the lives of those living with CDKL5.
CDKL5 SOUTH ASIA
TO FIND A CURE THAT IS ACCESSIBLE BY ALL FOR CDKL5
CDKL5 UK
To support patients and family through patient advocacy and peer support
Genetic Epilepsy Team Australia
Collaboration of research and care
Hope4Harper
Hope4Harper is a 501c3 not for profit organization created to provide hope, through research and awareness, to those living with CDKL5 disorder and Life After CDKL5 Disorder.
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.
Legacy Bridges Foundation, Inc
The Legacy Bridges Foundation, Inc. is a 501(c)3 non-profit organization founded to bridge the gap to support, educate and advocate for individuals, families and caregivers of those living with epilepsy and other seizure related disorders. The Legacy Bridges Foundation, Inc. is dedicated to helping champions live a sustainable life through participation of essential supportive programs and service
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
Orphan Disease Center
The Orphan Disease Center will develop transformative therapies using platform technologies that can be deployed across multiple rare diseases. We will emphasize disorders with substantial unmet need independent of their incidence and will strive to assure access to patients of all populations.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.