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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