EXOC6B, exocyst complex component 6B, 23233

N. diseases: 63; N. variants: 5
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE This is the first report of a de novo deletion affecting only EXOC6B in an individual with developmental delay. 25256811 2014
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 Biomarker phenotype BEFREE Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013