Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory...

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

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Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.

Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA meth...

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies