Abstract:To report one case of AICAR transformylase/IMP cyclohydrolase deficiency (ATICD). A 3-month-old female child has a significantly lower body length, facial abnormalities, hairy skin on the face, buttocks, and lumbosacral area, bilateral piercing hands, low extremities muscle tension, and poor head erection. She acted apathy and poor ability to chasing after objects; she was found aortic stenosis, optic nerve atrophy, and abnormal brain imaging; genetic testing found that the compound heterozygous ATIC mutations p.Gln184Ter and p.Lys426Arg in her. As far as we know, only 4 ATICD cases are now documented globally, and the diagnosis depends on the comprehensive genetic tests.