Recently, Pebrel-Richard and colleagues reported a case with a large heterozygous deletion on chromosome 16p11.2 encompassing CLN3 and a 1.02 kb deletion on the non-deleted allele of CLN3. This individual showed features of juvenile ceroid lipofuscinosis or Batten disease in addition to features of developmental delay, attention deficit disorder, and seizures (Pebrel-Richard et al., 2014). The gene discussed is CLN3; the disease is Global developmental delay.