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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>As its name suggests, CDKL5 deficiency disorder is caused by variants (also known as mutations) in the CDKL5 gene. This gene provides instructions for making a protein that is essential for normal brain development and function.</p><p>Variants in the CDKL5 gene reduce the amount of functional CDKL5 protein or alter its activity in nerve cells (neurons). A shortage (deficiency) of CDKL5 or impairment of its function disrupts brain development, but it is unclear how these changes cause the specific features of CDKL5 deficiency disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes CDKL5 deficiency disorder?"},{"bodyHtml":"<p>Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and can appear as early as the first week after birth. The types of seizures change with age, and may follow a predictable pattern. The most common types are generalized tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; tonic seizures, which are characterized by abnormal muscle contractions; and epileptic spasms, which involve short episodes of muscle jerks. Seizures occur daily in most people with CDKL5 deficiency disorder, although they can have periods when they are seizure-free. Seizures in CDKL5 deficiency disorder usually do not get better with treatment.</p><p>Development is impaired in children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of gross motor skills, such as sitting, standing, and walking, is delayed or not achieved. About one-third of affected individuals are able to walk independently. Fine motor skills, such as picking up small objects with the fingers, are also impaired; about half of affected individuals have purposeful use of their hands. Most people with this condition have vision problems (cortical visual impairment).</p><p>Other common features of CDKL5 deficiency disorder include repetitive hand movements (stereotypies), such as clapping, hand licking, and hand sucking; teeth grinding (bruxism); disrupted sleep; feeding difficulties; and gastrointestinal problems including constipation and backflow of acidic stomach contents into the esophagus (gastroesophageal reflux). Some affected individuals have episodes of irregular breathing. Distinctive facial features in some people with CDKL5 deficiency disorder include a high and broad forehead, large and deep-set eyes, a well-defined space between the nose and upper lip (philtrum), full lips, widely spaced teeth, and a high roof of the mouth (palate). Other physical differences can also occur, such as an unusually small head size (microcephaly), side-to-side curvature of the spine (scoliosis), and tapered fingers.</p><p>CDKL5 deficiency disorder was previously classified as an atypical form of Rett syndrome. These conditions have common features, including seizures, intellectual disability, and other problems with development. However, the signs and symptoms associated with CDKL5 deficiency disorder and its genetic cause are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now considered a separate condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cdkl5-deficiency-disorder","sourceDocuments":[{"name":"CDKL5 deficiency disorder","reviewed":"2017-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:07.627484+00:00","label":"Causes","pageSha256":"523fbc9d771b42f4b1770dbb694792d94ce936a8490f9b86f5d19ad908001bd4","sourceUrl":"https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"CDKL5 deficiency disorder"},"schemaVersion":1}