Dictionary of Human Evolution and Biology

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Rett Syndrome

Heritable, X-linked dominant, progressive neurodevelopmental arrest disorder characterized by mental retardation, neuronal impairment, reduced muscle tone, hand wringing, autistic-like behaviors, and seizures. RTT is lethal in hemizygous males, so clinical cases are always females; the responsible gene is thought to be defective in half the cells of a female’s body because of female mosaicism for X. Onset usually between 5th and 18th year. Defective molecule is methyl-CP6binding protein 2 (MECP2). Evidence of genomic imprinting.

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