Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood
hypotonia, and distinctive facial features. The majority of individuals function in the moderate…

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

… We analyzed significance between Control and Kleefstra groups by means of the Mann–Whitney
U test. Data are presented as mean ± standard error of the mean (SE). Details about …

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 …

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-…

… Mutations in the EHMT1 gene give rise to the archetypal Kleefstra syndrome, suggesting a
functional relationship between EHMT1 and KMT2C. Indeed these two proteins and several …

… We show that the Kleefstra-syndromeassociated protein EHMT1 plays a critical and cellautonomous
role in synaptic scaling by responding to attenuated neuronal firing or sensory drive. …

Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS)
is caused by haploinsufficiency of the EHMT1 gene. Both a single mutation and 9q34 …

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