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. This evidence concerns the gene HMOX1 and Global developmental delay.