Thus far, there have been few reports of patients with compound heterozygous mutations of NRXN1. A female suffering from Pitt-Hopkins-like syndrome-2, autistic traits, mental retardation, hyper-breathing and developmental regression inherited a deletion spanning exons 1–4 of NRXN1 from her unaffected mother and a stop mutation in exon 15 from her father (Zweier et al., 2009). This evidence concerns the gene NRXN1 and Pitt-Hopkins-like syndrome 2.