Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Intellectual disability is the most common developmental disorder characterized by a
congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with …

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable
to single-gene mutations at more than 1000 loci. Traditional methods yield molecular …

Importance Autosomal recessive inherited neurodevelopmental disorders are highly
heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986
individuals with moderate to severe ID for variants in 565 known or candidate ID‐associated …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–
3% of the general population. Although research into the genetic causes of ID has recently …

Background Intellectual disability is a very complex condition where more than 600 genes
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …