Considering complicated clinical manifestations, the Trio Whole Exon Sequencing test was run to screen for any hereditary diseases and found a heterozygous pathogenic mutation in SET domain containing 1A (SETD1A) gene (c.2096T > A; p. Leu699Ter, 1099), which was a de novo mutation. The gene discussed is SETD1A; the disease is hereditary disease.