CNGB3 and Intellectual disability: In Patient 1, a male patient with maternal 16p13.11 microdeletion, dysmorphisms and mild intellectual disability, the selected heterozygous paternal variant is a frame-shift variant in CNGB3 (OMIM *605080), a gene encoding the beta subunit of a cyclic nucleotide-gated ion channel with a possible role in modulation of channel function in cone photoreceptors.