Indeed, case 17 with global developmental delay has a NALCN missense variant that matches with the CLIFAHDD syndrome (# 616266) overlapping patient’s phenotype, and case 18 was with a PTCH1 frameshift variant associated with Gorlin syndrome (#109400). The gene discussed is NALCN; the disease is congenital contractures of the limbs and face, hypotonia, and developmental delay.