<h4>Objective</h4>To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population.<h4>Methods</h4>Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis.<h4>Results</h4>A Chinese Zang ethnic girl could not stand or walk until 3 years old, with additional symptoms including a loss of appetite. The gene discussed is CTNS; the disease is cystinosis.