To explore the clinical characteristics and genetic mutation in a family affected with Seckel syndrome.

Clinical data of the proband and his family members were collected. Potential mutations were detected by high-throughput sequencing and Sanger sequencing.

The proband, a 7-year-and-3-month-old boy, has featured proportioned dwarfism, microcephaly, "bird head" appearance (narrow and backward forehead, prominent and protruded eyes, beak-shaped nose, and microretrognathia), high-arched palate, enamel dysplasia, hypodontia, and mental retardation. His parents and two sisters were all phenotypically normal. The proband was found to harbor compound heterozygous c. 1535T>A (p.L512X) and c. 3346-5T>C (splicing) mutations of the CEP152 gene, which were respectively inherited from his mother and father.

The clinical features and genetic mutation of a case with Seckel syndrome were delineated. The newly discovered mutations have expanded the spectrum of CEP152 gene mutations.

CEP152 gene; Microcephaly; Mutation