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