Here, we describe a case of a nIHH patient carrying two variants in distinct candidate genes, FGFR1 and CEP290. In addition to predicting that CEP290 could be a new candidate gene for CHH, the biochemical significance of the FGFR1 mutant in vitro was identified for the first time. Here, FGFR1 is linked to cartilage-hair hypoplasia.