a family with a new homozygous mutation in FITM2, resulting in a truncated protein. The individuals in the family that are affected by this mutation exhibit Siddiqi syndrome. Siddiqi syndrome is identified by gradual development of hearing loss, late motor development, decreased BMI, ichthyosis-like changes to the skin, and minor fiber neuropathy. In this family, the collection of symptoms presented for this syndrome is new. However, they also overlap with several recognized monogenic conditions that are neurological in nature including Troyer syndrome, Mohr-Tranebjaerg syndrome, and Megdel syndrome. References Further reading Genes on human chromosome 20