Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
Lea Urpa,
Mitja I. Kurki,
Elisa Rahikkala
et al.
Abstract:Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants. To investigate the genetic factors influencing mild and severe ID, we evaluated rare and common variation in the Northern Finland Intellectual Disability cohort (n = 1096 ID patients), a… Show more
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