What is CDKL5 disorder?

Also known as: CDKL5 deficiency, STK9

CDKL5 (Cyclin-Dependent Kinase-Like 5) is a gene located on the X-chromosome. The CDKL5 gene is required to function normally for a normal brain to develop. While most children affected with this rare genetic disorder are girls (5 times more common), when boys are affected, they have more severe abnormalities.

CDKL5 mutations have been found in a number of children with a spectrum of neurological disorders.

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Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 1/29/2019 3:21:13 PM