obsolete_Rett syndrome true RETTS DIS DOID:1206 Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome use 'http://www.orpha.net/ORDO/Orphanet_778' instead. New Label : Rett syndrome 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 (MeSH). OMIM:312750 Hyperammonemias, Cerebroatrophic Syndrome, Rett 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) A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. Rett disorder Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome Tomasz Adamusiak http://www.orpha.net/ORDO/Orphanet_778 SNOMEDCT:68618008 Cerebroatrophic Hyperammonemias 2.32 RTS - Rett syndrome NIFSTD:birnlex_12770 Cerebroatrophic hyperammonaemia James Malone Hyperammonemia, Cerebroatrophic Rett's disorder true Rett's Syndrome Retts Syndrome RETT DIS Rett's disorder (disorder) A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. Cerebroatrophic Hyperammonemia Syndrome, Rett's MESH:D015518