NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. 23495017 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.020 GeneticVariation disease BEFREE Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. 22617343 2012