Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Progressive encephalopathy



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PMID (PMCID)
8484399
 FEMALE Adult
18q-mosaicism associated with Rett syndrome phenotype.
Gordon K, Siu VM, Sergovich F, Jung J.
Am J Med Genet. 1993;46(2):142-4.
Rett syndrome consists of a characteristic progressive encephalopathy in females.
2181354
 FEMALE Infant
Rett syndrome: case reports and review.
McIntosh RP, Simatos D, Weston HJ, Stanley TV.
N Z Med J. 1990;103(886):122-5.
Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age.