In conclusion, we report a case of West syndrome and a global developmental delay caused by a heterozygous mutation, c.86 G>A (p.Gly29Asp), in the TBL1XR1 gene, with the main clinical manifestations being episodic limb tremors, inability to raise the head, hypotonia of the extremities, inability to actively grasp objects with both hands, and inability to sit or stand unaided. The gene discussed is TBL1XR1; the disease is infantile spasms.