It was molecularly proven in 25 (8 CHD7 mutations, 6 FGFR1 mutations, 7 ANOS1 mutations, 2 PROKR2 mutations, 1 digenic SOX10/SEMA3F mutation, and 1 digenic ROBO3/IGFS10 mutation with anosmia and later absent puberty). The gene discussed is FGFR1; the disease is Anosmia.