Mutations in CDKL5 (aka STK9) have been termed atypical Rett syndrome, X-linked infantile spasm syndrome 2, and autism/mental retardation. Many individuals with a CDKL5 mutation have early onset encephalopathy and infantile spasms/seizure disorder as well as global developmental delay and intellectual disability. Other features may include hypotonia, scoliosis, microcephaly, lack of speech, stereotypic hand movements, and repetitive behaviors. In rare cases the only manifestations of the condition are mild mental retardation and autism spectrum disorder.
This laboratory performs Sanger sequencing of the CDKL5 gene.