Recently, we broaden the phenotype spectrum of NUP85-associated disease by reporting <i>NUP85</i> variants in two unrelated individuals with primary autosomal recessive microcephaly (MCPH) and Seckel syndrome (SCKS) spectrum disorders (MCPH-SCKS) without SRNS. This evidence concerns the gene NUP85 and autosomal recessive primary microcephaly.