Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Rare denovo variants represent a significant cause of neurodevelopmental delay and intellectual disability (ID).Exome sequencing was performed on 4351 patients with global developmental delay, seizures, microcephaly, macrocephaly, motor delay, delayed speech and language development, or ID according to Human Phenotype Ontology (HPO) terms. All patients had previously undergone whole exome sequencing as part of diagnostic genetic testing with a...