Kilquist Syndrome (KILQS)

Kilquist Syndrome, also known as kilqs, is related to sensorineural hearing loss and agenesis of the corpus callosum with peripheral neuropathy. An important gene associated with Kilquist Syndrome is SLC12A2 (Solute Carrier Family 12 Member 2), and among its related pathways/superpathways is Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include brain, and related phenotypes are hyperreflexia and mandibular prognathia