Also known as CDKL5 disorder, CKDL5 encephalopathy, CDKL5-related epilepsy, CDKL5-related epileptic encephalopathy, early infantile epileptic encephalopathy 2.
What is it?
CDKL5 (cyclin-dependent kinase-like 5) deficiency is a disorder that is characterized by seizures beginning in infancy, followed by severe neuro-developmental impairment.1
What Causes It?
CDD is caused by a mutation (change) in a person’s CDKL5 gene on the X chromosome, which provides instructions for making a protein that is essential for brain development and function.1
What Are Some Common Symptoms?1
- Early-onset, medication-resistant seizures (epilepsy)
- Developmental delay
- Intellectual disability
- Severe speech impairment
- Movement and balance problems (ataxia)
- Vision problems (cortical visual impairment)
- Small head size (acquired microcephaly)
How Many People Have It?
CDD affects an estimated 1 in 40,000 to 60,000 newborns globally.1
- CDKL5 deficiency disorder. MedlinePlus website. https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/. Published August 17, 2020. Accessed September 10, 2020.
Intended for U.S. audiences only
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Upcoming Community Events
Participate in Events Near YouJul 14
Join the MAGIC Foundation for an educational experience for parents of children living with an endocrine disorder. World renowned speakers from across the globe will present on physical health, mental […]
Jul 22
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Sep 1
In September, organizations across the country raise awareness about the importance of screening newborns for potential illnesses and genetic disorders. Learn more
CDD Patient Advocacy Groups*
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