• GRHL2: non-syndromic autosomal dominant deafness gene • VPS13B: the causative gene for Cohen syndrome • SPAG1: responsible for primary ciliary dyskinesia • RRM2B: encodes a small subunit of p53 mitochondrial DNA disorders and depletions • NCALD: neuronal signal transduction process. The gene discussed is VPS13B; the disease is primary ciliary dyskinesia.