Beschreibung:
An inherited neurological developmental disorder that is associated with 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; ; ; autistic behavior; intermittent ; and appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Synonym(s):
Hirnatrophische Hyperammonämie /
Syndrom mit Autismus, Demenz, Alexie und Verlust von zweckmäßigen Handbewegungen /