Mutations in CDKL5 can result in a variant Rett syndrome with neurodevelopmental delay. It is believed that CDKL5 and MECP2 belong to the same signalling pathway.

Chromosome: Xp22.13

Gene: CDKL5 (cyclin-dependent kinase-like 5)

Also known as: STK9


Clinical features:

(1) primarily seen in females

(2) normal neonatal period

(3) early onset of seizures and/or infantile spasms during infancy

(4) variable head growth retardation

(5) variable stereotypic midline hand movements

(6) mental retardation

(7) variable neurologic disorder

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