Cyclin-Dependent Kinase-Like 5 Deficiency Disorder

This code identifies Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder, a rare neurodevelopmental disorder characterized by early-onset, intractable epilepsy, severe global developmental delay, and distinctive dysmorphic features. It is a genetic condition resulting from mutations in the CDKL5 gene, primarily affecting brain development and function.

Assign this code for patients with a confirmed diagnosis of CDKL5 Deficiency Disorder, typically established through genetic testing identifying a pathogenic variant in the CDKL5 gene. Documentation should clearly indicate the diagnosis, often presenting with symptoms such as infantile spasms, Rett-like features, and profound intellectual disability.

• Ensure genetic testing results confirming the CDKL5 mutation are present in the medical record.
• Do not confuse with other forms of epilepsy or neurodevelopmental disorders without confirmed CDKL5 deficiency.
• Sequence this code as the primary diagnosis when it is the reason for the encounter, followed by codes for associated manifestations like specific seizure types or intellectual disabilities.