Moreover, homozygous loss- and gain-of-function FOXE1 variants [17,18,19,20,21,22] have both been implicated in Bamforth–Lazarus syndrome, characterised by congenital hypothyroidism, due to thyroid hypoplasia, ectopia or agenesis, cleft palate (CP), spiky hair with or without choanal atresia and bifid epiglottis [18,23]. Here, FOXE1 is linked to Bamforth-Lazarus syndrome.