CTNND2 deletion and intellectual disability

•We performed molecular karyotyping in two patients with intellectual disability.•We found an intragenic deletion in CTNND2.•Patients' phenotype complies with other cases described so far.•CTNND2 deletion is involved in brain function and intellectual disability.

Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%–18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.