FRAXE intellectual disability
GPTKB entity
Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
intellectual disability |
gptkbp:alternativeName |
gptkb:Fragile_XE_syndrome
FRAXE syndrome |
gptkbp:associatedWith |
speech delay
behavioral problems mild to moderate intellectual disability |
gptkbp:causedBy |
mutation in FMR2 gene
|
gptkbp:firstDescribed |
1991
|
gptkbp:gene |
gptkb:AFF2
|
https://www.w3.org/2000/01/rdf-schema#label |
FRAXE intellectual disability
|
gptkbp:inheritance |
X-linked recessive
|
gptkbp:locatedOnChromosome |
gptkb:Xq28
|
gptkbp:OMIM |
309548
|
gptkbp:prevalence |
rare
|
gptkbp:relatedTo |
gptkb:Fragile_X_syndrome
|
gptkbp:bfsParent |
gptkb:AFF2
|
gptkbp:bfsLayer |
7
|