Because of the splice sites in introns, this mutation causes the forming of dysfunctional proteins which lack crucial domains of the C-terminus.<h4>Conclusion</h4>Our findings portray an association between the new <i>MCPH1</i> mutation (c.348del) and the clinical features of autosomal recessive primary microcephaly (MCPH), contributing to a broader spectrum related to these pathologies. Here, MCPH1 is linked to autosomal recessive primary microcephaly.