VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
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 Here we report a novel homozygous nonsense mutation in the VPS13B gene and previously undescribed clinical features in a 19-year-old woman with developmental delay, intellectual disability, and a particular facial appearance. 31825161 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR