Other terms
Syndrome, Rett,Rett's Disorder,Cerebroatrophic Hyperammonemia,Cerebroatrophic Hyperammonemias,Hyperammonemia, Cerebroatrophic,Hyperammonemias, Cerebroatrophic,Rett Disorder,Rett's Syndrome,Retts Syndrome,Syndrome, Rett's,Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome,Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Description
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)
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