Herein, we confirmed a de novo mutation (c.2008G>A) in FGFR1 for the first time from a nIHH proband by in vitro experiments, and we additionally detected a novel heterozygous variant from CEP290, one of the pathogenic genes of ciliopathies identified to have a crucial role in the development of the olfactory epithelium [31]. Here, FGFR1 is linked to ciliopathy.