SHANK3 (also known as PROSAP2) is a postsynaptic scaffolding protein at excitatory
synapses in which mutations and deletions have been implicated in patients with idiopathic …

Neurodevelopmental disorders (NDDs) are a group of highly heterogeneous diseases that
affect children's social, cognitive, and emotional functioning. The etiology is complicated with …

Intellectual disability is a lifelong debilitating developmental disorder with important genetic
contribution, which remains challenging to investigate due to high clinical and genetic …

Abstract Objectives Intellectual Disability (ID) and Global Development Delay (GDD) are
frequent reasons for referral to genetic services and although they present overlapping …

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major
challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to …

Intellectual disability (ID) is a group of neurodevelopmental disorders characterized by an
extreme genetic heterogeneity, with more than 700 genes currently implicated in Mendelian …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

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

Background Austism spectrum disorder (ASD) is a heterogeneous behavioral disorder or
condition characterized by severe impairment of social engagement and the presence of …

Intellectual disability (ID) is a heterogeneous disorder with high prevalence and remarkable
social and cost burdens. Novel genetic variants of ATF7IP, CAPN9, ITGAV, ITSN1, and …