Both traits have not been thoroughly assessed in carriers of the recurrent reciprocal 2q13 CNV, who present with neuro-developmental/psychiatric disorders, dysmorphisms, congenital heart disorder, hypotonia, seizures, micro-/macrocephaly, and microphallus at variable penetrance and expressivity;59, 60, 61, 62, 63 the two latter features are reminiscent of growth defects potentially mediated by dysregulation of the GH/IGF-1/insulin axis. The gene discussed is GH1; the disease is psychiatric disorder.