Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …

Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …

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 …

Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …

In the last few years, next-generation sequencing has led to enormous progress in
deciphering monogenic forms of intellectual disability. Autosomal dominant intellectual …

Whole-exome sequencing (WES) is useful for molecular diagnosis, family genetic
counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis …

Abstract Intellectual and Developmental Disabilities (IDDs), such as Down syndrome,
Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth …

Intellectual disability affects approximately 1–3% of the population and can be caused by
genetic and environmental factors. Although many studies have investigated the etiology of …

Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

Intellectual disability (ID) is a measurable phenotypic consequence of genetic and
environmental factors. In this study, we prospectively assessed the diagnostic yield of …