We identified homozygous mutations in KIF14 (NM_014875.2;c.263T&gt;A;pLeu88*, c.2480_2482delTTG; p.Val827del, and c.4071G&gt;A;p.Gln1357=) as the likely cause in 3 MCPH families.
C3711387
Autosomal Recessive Primary Microcephaly