A follow-up assessment showed that although this patient has previously been identified to carry a possible mutation in the ATRX gene, more recent data demonstrated that c.5579A>G; p.N1860S in the ATRX gene is indeed a benign polymorphism and hence this patent did not have the ATR-X syndrome. The gene discussed is ATRX; the disease is Alpha-thalassemia - X-linked intellectual disability syndrome.