|
gptkbp:instanceOf
|
neurological disorder
|
|
gptkbp:affects
|
females
|
|
gptkbp:associatedWith
|
gptkb:CDKL5_deficiency_disorder
gptkb:FOXG1_syndrome
gptkb:MECP2_duplication_syndrome
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Andreas_Rett
1966
|
|
gptkbp:hasAwarenessColor
|
purple
|
|
gptkbp:hasAwarenessDay
|
October
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Rett syndrome
|
|
gptkbp:ICD-10_code
|
F84.2
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
|
|
gptkbp:mutationAssociatedWith
|
gptkb:MECP2_gene
|
|
gptkbp:namedAfter
|
gptkb:Andreas_Rett
|
|
gptkbp:OMIM
|
312750
|
|
gptkbp:onset
|
early childhood
|
|
gptkbp:organization
|
gptkb:International_Rett_Syndrome_Foundation
gptkb:Rett_Syndrome_Research_Trust
gptkb:Rett_UK
|
|
gptkbp:prevalence
|
1 in 10,000 to 15,000 female births
|
|
gptkbp:prognosis
|
reduced life expectancy
variable severity
|
|
gptkbp:researchInterest
|
gene therapy
symptom management
MECP2 reactivation
|
|
gptkbp:symptom
|
intellectual disability
scoliosis
seizures
gait abnormalities
growth retardation
repetitive hand movements
breathing irregularities
loss of purposeful hand skills
loss of spoken language
|
|
gptkbp:treatment
|
supportive care
occupational therapy
physical therapy
speech therapy
antiepileptic drugs
|
|
gptkbp:bfsParent
|
gptkb:Xq28
gptkb:Autism_spectrum
gptkb:autism_(classic)
gptkb:F84
|
|
gptkbp:bfsLayer
|
6
|