Background The causes of intellectual disability remain largely unknown because of
extensive clinical and genetic heterogeneity. Methods We evaluated patients with intellectual …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin 1 , 2 . The extensive genetic heterogeneity of this disorder requires a genome-…

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

Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent
deficits in social communication and interaction and restricted, repetitive patterns of behavior…

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous
and present a major challenge in clinical genetics and medicine. Although many genes …

Background: The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised
by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In …

Background DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor
protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, …

Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual
disability,(childhood) hypotonia and distinct facial features. The syndrome can be either …

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the
Down syndrome critical region; copy number increase of this gene is thought to have a major …