Thus, copy number increase of TARS is likely to be related to developmental delay and congenital malformations; ADAMTS12—brain dysfunction, developmental delay and congenital malformations; RXFP3—neurological symptoms and feeding problems; SLC45A2—eye pathology; AMACR—neurological symptoms (i.e. deafness), eye pathology and congenital malformations; C1QTNF3—growth retardation and feeding problems. The gene discussed is SLC45A2; the disease is Global developmental delay.