Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males more than females
|
| gptkbp:alsoKnownAs |
FRAXE syndrome
|
| gptkbp:associatedWith |
expansion of CCG trinucleotide repeat in FMR2 gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1991
|
| https://www.w3.org/2000/01/rdf-schema#label |
Fragile XE syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
FMR2 gene
|
| gptkbp:OMIM |
309548
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Fragile_X_syndrome
|
| gptkbp:symptom |
learning difficulties
speech delay mild to moderate intellectual disability |
| gptkbp:bfsParent |
gptkb:AFF2
|
| gptkbp:bfsLayer |
7
|