According to the OMIM database, FGFR1 is associated with the autosomal dominant disorders Hartsfield syndrome (#615465), hypogonadotropic hypogonadism (#147950), Jackson–Weiss syndrome (MIM #123150), and Pfeiffer syndrome (MIM #101600), exhibiting an incomplete penetrance. Here, FGFR1 is linked to Hartsfield-Bixler-Demyer syndrome.