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Disease Rett Syndrome

Name Rett Syndrome
Synonyms Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use | AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED | Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome | Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome | Cerebroatrophic Hyperammonemia | Cerebroatrophic Hyperammonemias | Hyperammonemia, Cerebroatrophic | Hyperammonemias, Cerebroatrophic | Rett Disorder | Rett's Disorder | Rett's Syndrome | Retts Syndrome | RETT SYNDROME, ATYPICAL, INCLUDED | RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED | RTS | RTT | Syndrome, Rett | Syndrome, Rett's
Definition 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. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D015518
OMIM® ID 312750
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Rett Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Rett Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Rett Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Rett Syndrome Has associated chemicals Has associated genes
  Epileptic Encephalopathy, Early Infantile, 2 Has associated chemicals Has associated genes
  Rett Syndrome, Atypical
  RETT SYNDROME, CONGENITAL VARIANT Has associated chemicals Has associated genes
  Rett Syndrome, Preserved Speech Variant
  Rett Syndrome, Zappella Variant