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Rett Syndrome

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)

Year introduced: 1990

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Tree Number(s): C10.597.606.360.455.937, C16.320.322.500.937, C16.320.400.525.937

MeSH Unique ID: D015518

Entry Terms:

  • Syndrome, Rett
  • Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
  • Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
  • Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
  • Rett Disorder
  • Rett's Disorder
  • Rett's Syndrome
  • Retts Syndrome
  • Syndrome, Rett's
  • Cerebroatrophic Hyperammonemia
  • Cerebroatrophic Hyperammonemias
  • Hyperammonemia, Cerebroatrophic
  • Hyperammonemias, Cerebroatrophic

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