Trio-Related Intellectual Disability

Penetrance Information available is insufficient to allow conclusions regarding the penetrance of trio pathogenic variants. based on the family reported by pengelly et al [2016], some degree of intrafamilial clinical variability can be seen. variable expressivity may lead to underascertainment of mildly affected individuals and possibly explain the presence (on rare occasions) of individuals harboring presumably pathogenic variants in trio in control population-based cohorts such as the exome aggregation consortium (exac) [lek et al 2016]...