X-linked mental retardation
pervasive development disorder
syndrome
brain disease
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).
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)
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic hyperammonaemia
DOID:1206
GeneRIF:11432961
GeneRIF:11768391
GeneRIF:11896459
GeneRIF:11955928
GeneRIF:12081725
GeneRIF:12107440
GeneRIF:12111643
GeneRIF:12160743
GeneRIF:12170461
GeneRIF:12442230
GeneRIF:12449561
GeneRIF:12707946
GeneRIF:12770674
GeneRIF:14649549
GeneRIF:14751287
GeneRIF:14974082
GeneRIF:15057977
GeneRIF:15809268
GeneRIF:15954098
GeneRIF:16015284
GeneRIF:16077729
GeneRIF:16077736
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
James Malone
MSH:D015518
NIFSTD:birnlex_12770
RETT DIS
RETTS DIS
RTS - Rett syndrome
Rett Disorder
Rett syndrome
Rett's Disorder
Rett's disorder (disorder)
SNOMEDCT:68618008
Syndrome, Rett's
Tomasz Adamusiak
URI: http://www.ebi.ac.uk/cellline#Rett_syndrome