HOXA1-related syndrome

Any syndromic disease in which the cause of the disease is a variation in the HOXA1 gene. HOXA1-related disorders are characterized by ocular motility disorder (horizontal gaze palsy with or without Duane syndrome), bilateral sensorineural deafness, cerebrovascular malformations (predominantly involving the carotid arteries), motor delay, central hypoventilation, and intellectual disability. Additional common features include congenital heart disease, facial paresis, vocal cord paresis, and swallowing dysfunction. Transmission is autosomal recessive.