| umls-concept:C0035372 | skos:definition | MSH: 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),CSP: progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.,MEDLINEPLUS: <p>Rett syndrome is a rare inherited disease that causes developmental and nervous system problems, mostly in girls. It's related to <a href='http://www.nlm.nih.gov/medlineplus/autism.html'>autism</a>. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop dev | lld:umls |
