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)
Other names Cerebroatrophic Hyperammonemia; Autism-Dementia-Ataxia-Loss of Purposeful Hand Use; Syndrome, Rett's; Syndrome, Rett; Retts Syndrome; Hyperammonemias, Cerebroatrophic; Hyperammonemia, Cerebroatrophic; Cerebroatrophic Hyperammonemias; Autism Dementia Ataxia Loss of Purposeful Hand Use; Rett's Syndrome; Rett's Disorder; Rett Disorder; Autism, Dementia, Ataxia, and Loss of Purposeful H
