Interestingly, this mutation appears in compound heterozygosis with the previously described p.Arg95Trp mutation [9,11] in a patient displaying fully penetrant LAMM syndrome-congenital deafness, bilateral inner ear agenesis, microtia, microdontia and psychomotor retardation—further illustrating the variable expressivity and lack of penetrance resulting from FGF3 mutations. The gene discussed is FGF3; the disease is deafness with labyrinthine aplasia, microtia, and microdontia.