HOXA1 is associated with Athabaskan brainstem dysgenesis syndrome (ABDS) and Bosley-Salih-Alorainy syndrome (BSAS). ABDS is common in several Native American tribes and is characterized by congenital horizontal gaze palsy, deafness, and central hypoventilation. All patients have developmental delay. Less common features include heart defects and seizures.
BSAS is seen in both the Saudi Arabian and Turkish populations. All individuals have bilateral Duane syndrome and most have sensorineural deafness and developmental delay. Less common features include external ear defects and autism spectrum disorder.
Both conditions are inherited in an autosomal recessive manner.