In the 5-year-old male patient with developmental delay, moderate intellectual disability and intractable seizures, we identified two de novo variants, the c.406 G > A variant in MYO1G (MIM: 600642), predicting the amino acid substitution p.(Asp136Asn), and the MEPCE (MIM: 611478) variant c.1552 C > T, predicting the introduction of a premature stop codon in the mRNA [p.(Arg518*)] (Table S1). Here, MYO1G is linked to Global developmental delay.