A full exome genetic test revealed that the child had a heterozygous mutation in the TBL1XR1 gene, c.86 G>A (p.Gly29Asp), a locus previously reported in the literature with no details regarding the associated clinical manifestations.[13] She was presented with episodic limb tremors and a general developmental delay, with no obvious facial deformities or stereotyped hand movements. The gene discussed is TBL1XR1; the disease is Global developmental delay.