Athabaskan brainstem dysgenesis syndrome (Navajo brainstem syndrome)

Genetics

• associated with defects in HOXA1

Clinical manifestations

• horizontal gaze palsy
• sensorineural deafness
• central hypoventilation
• developmental delay
• variable manifestations:
  • swallowing dysfunction
  • vocal cord paralysis
  • facial paresis
  • seizures
  • cardiac outflow tract anomalies

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Database

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