WDR62 and Primary microcephaly: We report compound heterozygous WDR62 mutations in a German girl with primary microcephaly: (i) a missense mutation with single nucleotide transition c.1313G>A in exon 10 resulting in the substitution of arginine by histidine (R438H) which has been reported previously in homozygous patients (4), and (ii) a novel frameshift deletion of four nucleotides c.2864-2867delACAG in exon 23 that resulted in a stop codon of the new reading frame 112 aa downstream of the deletion (p.D955Afs*112) (Figure 1).