It is characterized by a variety of varied traits, such as facial paresis, sensorineural deafness, congenital horizontal gaze palsy, central hypoventilation, and developmental delay.

[1] Symptoms of Athabaskan brainstem dysgenesis syndrome include developmental delay, central hypoventilation, sensorineural deafness, congenital horizontal gaze palsy, and additional variable characteristics, such as facial paresis.

[1] It has been established that HOXA1 deficiency, which disrupts normal motor neuron development and results in loss of normal brainstem function, is the genetic etiology of Athabaskan brainstem dysgenesis syndrome.

[2] It has been discovered that two loss-of-function non-sense mutations in the HOXA1 gene, which result in a shortened protein product, are homozygous in patients with Athabaskan brainstem dysgenesis syndrome.

[3] The diagnostic criteria for Athabaskan brainstem dysgenesis syndrome include:[1] Treatment includes mechanical ventilation and supplemental oxygen.