We read with great interest the newest paper in this field, which implicates four different heterozygous de novo variants in SPTBN5 (His89Pro, Tyr311*, Asn2937Tyr, Glu3262Lys) as the disease cause in patients with a combination of intellectual disability, developmental delay and seizures (Khan et al., 2022). The gene discussed is SPTBN5; the disease is Global developmental delay.