A hemizygous variant c.6257 T > C; p.(Leu2086Ser) in ATRX (NM_000489.3) was detected in Patient 3, who was characterized by moderate ID, dysmorphic face (large forehead, low anterior hairline, hypertelorism, broad nasal bridge, small ears, strabismus), ventricular septal defect (repaired at the age of 5 years), scoliosis, and high arch of left foot. Here, ATRX is linked to Strabismus.