Importantly, we identified candidate genes including: FOXK2 (pLI = 0.03) and RBFOX3 (pLI = 1) associated with neurodevelopmental disorders; TBCD associated with dysmorphic facial features; and RNF213 (pLI = 0), SEPTIN9 (pLI = 1), and EXOC7 (pLI = 0) associated with neurodevelopmental disorders and cardiac malformations (Table 2). This evidence concerns the gene SEPTIN9 and Thiel-Behnke corneal dystrophy.