Rett syndrome

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

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone).


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PMID (PMCID)
19396824
 FEMALE
A CDKL5 mutated child with precocious puberty.
Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.
Am J Med Genet A. 2009;149A(5):1046-51.
Most patients also show impaired social interaction with avoidance of eye-to-eye contact, and some clinical features reminiscent of Rett syndrome (RTT), including stereotypic hand movements, lack of purposeful hand use, acquired microcephaly, and generalized hypotonia.