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gptkbp:instanceOf
|
gptkb:genetic_disorder
|
|
gptkbp:alsoKnownAs
|
Martin–Bell syndrome
|
|
gptkbp:associatedWith
|
gptkb:attention_deficit_hyperactivity_disorder
seizures
mitral valve prolapse
connective tissue problems
|
|
gptkbp:carrierTestingAvailable
|
yes
|
|
gptkbp:category
|
gptkb:syndrome
gptkb:neurological_disorder
gptkb:rare_disease
|
|
gptkbp:causedBy
|
mutation in FMR1 gene
|
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gptkbp:chromosomeAffected
|
gptkb:X_chromosome
|
|
gptkbp:diagnosedBy
|
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Julia_Bell
1943
James Purdon Martin
|
|
gptkbp:frequency
|
most common inherited cause of intellectual disability
|
|
gptkbp:ICD-10_code
|
Q99.2
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:locatedOnChromosome
|
Xq27.3
|
|
gptkbp:MeSH_ID
|
D005602
|
|
gptkbp:notableFeature
|
anticipation (worsening in successive generations)
female carriers may have mild symptoms
mosaicism possible
|
|
gptkbp:OMIM
|
300624
|
|
gptkbp:prenatalTestingAvailable
|
yes
|
|
gptkbp:prevalence
|
1 in 4,000 males
1 in 8,000 females
|
|
gptkbp:proteinAffected
|
gptkb:FMRP
|
|
gptkbp:repeatExpansion
|
CGG trinucleotide repeat
|
|
gptkbp:riskFactor
|
family history of Fragile X syndrome
|
|
gptkbp:symptom
|
gptkb:intellectual_disability
large ears
anxiety
speech delay
hyperactivity
autism spectrum features
long face
macroorchidism
|
|
gptkbp:treatment
|
behavioral therapy
occupational therapy
speech therapy
supportive therapy
|
|
gptkbp:bfsParent
|
gptkb:X-linked_intellectual_disability
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Fragile X syndrome
|