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Athabaskan brainstem dysgenesis syndrome

Disease definition

A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.


Classification level: Disorder
  • Synonym(s):
    • ABSD
    • Athabascan brainstem dysgenesis syndrome
    • Navajo brainstem syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G96.8
  • OMIM: 601536
  • UMLS: C1832215
  • MeSH: C535397
  • GARD: 8333
  • MedDRA: -
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