Genetic testing identified compound heterozygous nonsense mutations in HMOX1. Furthermore, array-based Comparative Genomic Hybridization (array-CGH) analysis revealed a 16p13.11 microduplication of paternal origin, which is known to potentially contribute to congenital heart disease, behavioral disorders, developmental delays, brain abnormalities, and skeletal malformations. The gene discussed is HMOX1; the disease is Atypical behavior.