FITM2 and hearing loss disorder: We have described a family with a novel homozygous truncating mutation, c.4G>T (p.Glu2*), in FITM2. Affected individuals display Siddiqi syndrome, a novel syndrome characterized by progressive sensorineural hearing impairment, delayed motor development and subsequent regression, low BMI, ichthyosis-like skin alterations and signs of a small fiber neuropathy.