Engelsk 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)
Svenska synonymer
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Engelska synonymer
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