AFF2, AF4/FMR2 family member 2, 2334

N. diseases: 66; N. variants: 2
Disease: Borderline intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.010 GeneticVariation disease BEFREE Expansion of the FRAXE CCG repeat to a full mutation is associated with methylation and transcriptional silencing of the FMR2 gene, and as a consequence, mild-to-borderline mental retardation. 11355014 2001