It was reported that CEP135 was one of the MCPH (autosomal recessive primary microcephaly; MIM251200) genes, and pathogenic mutations in this gene caused autosomal recessive primary microcephaly and reduced the growth rate in human, characterized by reduced brain and skull size with sloping forehead and short stature[56,57]. This evidence concerns the gene CEP135 and autosomal recessive primary microcephaly.