NYX and susceptibility to pneumonia measurement: The proband RP-1321, who presented RP, cochlear malformation, neurodevelopmental alterations, recurrent pneumonia, hypotonia, and limb malformations and carried a likely pathogenic hemizygous missense variant in NYX (MIM *300278) and a 1q21.1q21.2 microduplication of 1.2 Mb (Supplementary Fig. S5).