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) [MeSH]