Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia which caused by mutations in the trafficking protein particle complex, subunit 2 (i＞기울림꼴/i＞) gene. Patients show disproportionate short stature with short trunk and barrel-shaped chest. The radiologic findings are characterized by narrow intervertebral disc spaces and moderated epiphyseal dysplasia of long bones. A 15-year-old boy visited hospital due to disproportionate short stature. His height was 147.6 cm (-2.66 SDS). His father’s height was 178 cm (0.81 SDS), whereas his mother was proportionately short at 146 cm (-3.12 SDS). His two sisters were 158 cm (-0.55 SDS) and 160 cm (-0.15 SDS) tall. His developmental milestones and intelligence was normal. Normal ambulatory activities were possible without help. Trunk was relatively short and chest cage was barrel–shaped. Skeletal survey revealed mild flattening of the epiphyses of long bones in knee and hip, but the metaphyses and diaphyses were normal. With the impression of SED, genetic testing was done and we searched i＞기울림꼴/i＞ gene, in which a frameshift mutation was found, c.40del (p.Asp14Ilefs*24). His mother was heterozygous carrier for the mutation, whereas his two sisters didn’t harbor the mutation. This is the first Korean report with SEDT confirmed by genetic testing.