Intellectual disability (ID) is characterized by significant limitations in both intellectual
functioning and adaptive behaviors, originating before the age of 18 years. However, the …

To identify novel candidate intellectual disability genes, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 ID trios. Statistical analyses …

Neurodevelopmental disorders (NDDs) are a group of highly prevalent, clinically and
genetically heterogeneous pediatric disorders comprising, according to the Diagnostic and …

Intellectual disability (ID) and global developmental delay are closely related; the latter is
reserved for children under the age of 5 years as it is challenging to reliably assess clinical …

The genetics of neurodevelopmental disorders (NDD) has made tremendous progress
during the last few decades with the identification of more than 1,500 genes associated with …

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5),
is an autosomal recessive disorder that is characterized by intellectual disability (ID) …

Introduction Intellectual disability (ID) is often sporadic, and its complex etiology makes
clinical diagnosis extremely difficult. Objective The aims of this study were to detect copy …

Background The X chromosome has historically been one of the most thoroughly
investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed …

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 …

SHANK3 mutations, including de novo deletions, have been associated with autism
spectrum disorders (ASD). However, the effects of SHANK3 loss of function on …