PAX1 and otofaciocervical syndrome: At least, the molecular analysis of patient UD3 showed a homozygous c.158C>A (p.Ser53*) pathogenic variant in the PAX1 gene, associated with otofaciocervical syndrome, and another likely-pathogenic homozygous variant, c.1071T>G (pIle357Met) in the CFI gene, associated with susceptibility to age-related macular degeneration.