Patients with Athabascan brainstem dysgenesis syndrome (ABDS) and Bosley-Salih-Alorainy syndrome (BSAS) can have the following clinical features:
• Ocular motility disorder (eye movement disorder).
• Sensorineural deafness (a type of hearing loss)
• Variable cerebrovascular malformations (vascular malformations related to the blood vessels that supply the brain and other cranial structures)
• Motor developmental delay (related to problems with gross movement skills, such as crawling).
The patients of ABDS differ from BSAS by the presence of central hypoventilation (a disorder that affects normal breathing) and intellectual disability. Moreover, congenital heart disease and weakness of facial muscles can also be variably present in patients with ABDS.
HOXA1