Bosley-Salih-Alorainy syndrome

Genetics

• associated with defects in HOXA1

Clinical manifestations

• horizontal gaze abnormalities
• deafness
• facial weakness
• vascular malformations of the internal carotid arteries & cardiac outflow trac
• variable manifestations:
  • mental retardation
  • autism
• in contrast to individuals with Athabaskan brainstem dysgenesis syndrome, central hypoventilation is not observed

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601536