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Rett Syndrome

Name: Rett Syndrome
Description: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH).
Synonym(s): Cerebroatrophic Hyperammonemia, Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome, Rett Disorder, RS
Super-category: Pervasive Development Disorder
URL: Menkes, Textbook of Child Neurology, 5th ed, p199
*Id: birnlex_12770
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  • Definition Source: MeSH

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Facts about Rett SyndromeRDF feed
Created8 October 2007  +
CurationStatusuncurated  +
DefiningCitationMenkes, Textbook of Child Neurology, 5th ed, p199  +
DefinitionAn inherited neurological developmental di An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH). ILATION; and HYPERAMMONEMIA appear (MeSH).
DefinitionSourceMeSH  +
Idbirnlex_12770  +
LabelRett Syndrome  +
ModifiedDate3 October 2009  +
SuperCategoryPervasive Development Disorder  +
SynonymCerebroatrophic Hyperammonemia  +, Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome  +, Rett Disorder  +, and RS  +