Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.

Herein, we identified a novel homozygous missense variant in the WDR62 in two patients with MCPH2. Vertical nystagmus and sensorineural hearing loss were detected as novel neurological findings. The present study expands the phenotype and genotype spectrum of MCPH2.