Pathology

 germline mutation in

• ATR-X syndrome (MIM.301040) (X-linked alpha-thalassemia retardation syndrome)
• Juberg-Marsidi syndrome (MIM.309590)
• Smith-Fineman-Myers type of mental retardation (MIM.309580)

References

 Tang P, Park DJ, Marshall Graves JA, Harley VR. ATRX and sex differentiation. Trends Endocrinol Metab. 2004 Sep;15(7):339-44. PMID: 15350606