Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
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 |
neurological disorder
syndrome rare disease |
| gptkbp:causedBy |
mutation in FMR1 gene
|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fragile X syndrome
|
| 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 |
large ears
anxiety intellectual disability 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
|