NRXN2, neurexin 2, 9379

N. diseases: 18; N. variants: 41
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors. 29654904 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group BEFREE The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. 26164757 2015