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Rett syndrome
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Genetic brain disorder
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atypical Rett syndrome
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term)
Subject of 7
Rett syndrome: the complex nature of a monogenic disease
scientific article
Investigation of modifier genes within copy number variations in Rett syndrome
scientific article
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
scientific article published in July 2018
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
scientific article published on 13 March 2014
FOXG1 is responsible for the congenital variant of Rett syndrome
scientific article
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
scientific article published in April 2003
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome
scientific article published on 16 July 2020
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Wikipedia

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include...

Instance of
designated intractable/rare disease
Rare disease
class of disease
Subclass of
Pervasive developmental disorder
Neurological disorder
Disease
References
Wikidata