In patient NJ233 who presented with global developmental delay, microcephaly, growth retardation and slightly dysmorphic features was found to have compound heterozygous variants (NM_012284: c.961C > T;p.His321Tyr/c.2812_2813del;p.Leu938ValfsTer73) in KCNH3 (Table 2 and Supplementary Fig. S2). The gene discussed is KCNH3; the disease is microcephaly.