After filtering, variants in two genes were consistent with the recessive disease model, but these genes, CNGA3 (MIM: 600053) and NEB (MIM: 161650), are associated with achromatopsia 2 (MIM: 216900) and nemaline myopathy 2 (MIM: 256030), respectively, disorders without a craniofacial phenotype, and thus were not considered further. The gene discussed is NEB; the disease is achromatopsia 2.