EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE We identified three girls with classical CFNS and mild developmental delay harboring de novo deletions of the EFNB1 gene. 17941886 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO