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Rett Syndrome is a neurodevelopmental disorder with a range of phenotypes including: Classic Rett syndrome, Atypical Rett syndrome, and mild learning disabilities. It is characterized by a rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. It affects approximately 1/10,000 to 1/15,000 females and is the most common genetic cause of intellectual disability in females.
Three genes are associated with Rett syndrome: MECP2, CDKL5 & FOXG1
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