In this study, we identified a homozygous truncating mutation in FITM2 in a consanguineous family of Pakistani origin with Siddiqi syndrome, a novel and characteristic combination of clinical features of progressive sensorineural hearing impairment, delayed development and regression of motor skills, dystonia, low body mass index (BMI), an ichthosis-like appearance of the skin and signs of a sensory neuropathy. The gene discussed is FITM2; the disease is Siddiqi syndrome.