Search on: RETT SYNDROME 
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Descriptor English:   Rett Syndrome 
Descriptor Spanish:   síndrome de Rett 
Descriptor Portuguese:   Síndrome de Rett 
Synonyms English:   Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia
Cerebroatrophic Hyperammonemias
Hyperammonemia, Cerebroatrophic
Hyperammonemias, Cerebroatrophic
Rett Disorder
Rett's Disorder
Rett's Syndrome
Retts Syndrome
Syndrome, Rett
Syndrome, Rett's  
Tree Number:   C10.597.606.360.455.937
C16.320.322.500.937
C16.320.400.525.937
Definition English:   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) 
See Related English:   Intellectual Disability
 
History Note English:   90 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   24868 
Unique Identifier:   D015518 

Occurrence in VHL:
 

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