In contrast, only TXNL4A, the pathologic gene underlying Burn-McKeown syndrome with severe dysmorphism, was deleted in 46,XX,r(18)(p11.3q23) (https://decipher.sanger.ac.uk/excel, S8 Table). Here, TXNL4A is linked to Choanal atresia-deafness-cardiac defects-dysmorphism syndrome.